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SynGAP10 weekly 10 minute updates on SYNGAP1 (audio)

SynGAP10 weekly 10 minute updates on SYNGAP1 (audio)

By Mike Graglia, Syngap Research Fund
SYNGAP10 is a 10 minute weekly blog to keep parents and families up to date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients and advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think. There are over 762 diagnosed patients on earth according to SRF's #SyngapCensus, if you are related to one of those patients or are a researcher or clinican interested in SYNGAP1, this podcast is for you.
Learn more at www.syngapresearchfund.org/
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YOU CAN HELP PRAXIS TO PREPARE FOR CLINICAL TRIAL READINESS FOR SYNGAP1 IN PARTNERSHIP WITH CIITIZEN & SRF
REFRESH RECORDS COLLECTION Go to your providers and see what records were collected and when, if you have been back since then, ask them to recollect. SIGN UP FOR TRACKER SURVEY If you are signed up for ciitizen, you have an email from “Invitae Research Studies - research-studies@invitae.com” The subject is “Invitation to participate in Invitae's Ciitizen rare neurological disorders research study” DO IT EVERY DAY FOR 30 DAYS WATCH THE WEBINAR (Number: 64) FB: https://www.facebook.com/cureSYNGAP1/videos/5755953431123242/ YT: https://www.syngapresearchfund.org/webinars/64-syngap-study-seizure-tracker/ IF YOU HAVEN’T ALREADY, SIGN UP FOR CIITIZEN www.ciitizen.com/syngap1 LEARN ABOUT PRAXIS: https://www.youtube.com/watch?v=Kh7O1bxXsSE KEY REMINDERS FUNDRAISERS BOWIE/ID in US syngap.fund/bowie BOWIE/ID in CANADA syngap.fund/overcome MICE: Help us Make 2!  https://syngap.fund/2mice BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS 4 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ 8 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala 8 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap 9 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/ 13 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree 13 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient 16 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://syngap.fund/10a Episode 70 of #Syngap10 - August 12, 2022 #PRAXIS #CIITIZEN #INVITAE #SEIZURETRACKER #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
10:54
August 12, 2022
Why the Bowie grant is so exciting!  Our second collaborative grant! #s10e69
First grant: You can learn more about the Courtney grant in episode 66? #s10e66  https://www.youtube.com/watch?v=_eVw6Oc_V_Y (Like these and subscribe to our YouTube channel). Second grant: Here is the press release and social media on the Bowie grant.  - Facebook: https://www.facebook.com/cureSYNGAP1/posts/356581543313514   - Twitter:  https://twitter.com/curesyngap1/status/1552642957546700800  - LinkedIn: https://www.linkedin.com/feed/update/urn:li:activity:6958432905563955200   - Press Release: https://www.eurekalert.org/news-releases/960181      1. We have LOTS of requests for support, many are good. So you should join us in supporting this one.     2. This is exciting - Quality and Focused - We said yes. The Bowie Grant story.  Excellent and committed to SYNGAP1.  Can’t help but like the guy. Key words from press release: Prof. Bowie believes that by correcting targets downstream of these synapses, a specific combination therapy can result in a common improvement of the ID phenotype. This grant will support his lab in investigating the efficacy of this therapy via SYNGAP1 mouse models…to test our idea of using a small molecule approach to target the molecular pathways giving rise to intellectual disability. I am excited to see what new insights this research will uncover.     3. Global Collaboration - Overcome and Campdraft/SRF-Australia Tax deductible Donations in TWO Countries for this grant:     - US syngap.fund/bowie     - CANADA syngap.fund/overcome     4. Reminder: Infrastructure is huge and it’s here for you. Don’t take for granted the work that is required to give you opportunities to fund.  Diligence, Grants to leading researchers, Webpages, Tax receipts, funds flowing directly to well governed organizations.  It’s here for you, fund the work! FUNDRAISERS - BOWIE/ID in US syngap.fund/bowie - BOWIE/ID in CANADA syngap.fund/overcome - MICE: Help us Make 2!  https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers  EVENTS - 6 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/  - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/- fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society https://www.childneurologysociety.org/colleagues/network/cns-annual-meeting/  - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 15 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://syngap.fund/10a Episode 69 of #Syngap10 - July 29, 2022  #Bowie #McGill #IntellectualDisability #overcomesyngap1 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration 
10:54
July 29, 2022
This week was ripe with a promising future! #s10e68
This week was ripe with a promising future! #s10e68 Remember Episode 67? https://www.youtube.com/watch?v=dVpl1UEBVXA (Like these and subscribe to our YouTube channel). Monday - Invitae Announcement https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Announces-Strategic-Business-Realignment-to-Accelerate-Its-Path-to-Positive-Cash-Flow-and-Realize-Full-Potential-of-Industry-Leading-Genetics-Testing-Platform/default.aspx - Sign up for Ciitizen: https://syngap.fund/ciitizen - CMO email: “While the announcement focused primarily on our operations and product portfolio, I wanted to take this opportunity to reinforce that Invitae remains unwavering in its commitment to patients. Cultivating strong relationships with Patient Advocacy Groups remains central to our business and our patient-centric philosophy. We will continue to collaborate closely with our Patient Advocacy partners and communities to educate patients and their families on the value of genetic testing in diagnosing and potentially preventing disease. Together with you, we remain steadfast in empowering and supporting patients and highlighting the many opportunities where genetic testing may be beneficial. “ Pharmacogenetics in case you are curious: https://ir.invitae.com/news-and-events/press-releases/press-release-details/2022/Invitae-Launches-Expanded-Pharmacogenomics-Panel-and-Specialized-Mental-Health-Panel/default.aspx Tuesday - Prosser Pre-Print - Mapping PTBP splicing in human brain identifies targets for therapeutic splice switching including SYNGAP1 - “We find that PTBP2 binding to SYNGAP1 mRNA promotes alternative splicing and non-sense mediated decay. Antisense oligonucleotides that disrupt PTBP binding sites on SYNGAP1 redirect splicing and increase gene and protein expression.” - https://twitter.com/cureSYNGAP1/status/1549408144987652104?s=20&t=u5iAtpoucdyaiT06Vt77pg Wednesday - Sample collection at Stanford. - Planning for end of year, see below. Thursday - CHOP Update - https://www.helbiglab.io/ - https://www.youtube.com/watch?v=JVTnkQCtQNo Friday - Disease concept interview, Rarebase & Colombia - WCMC is looking to add to the pile of disease concept studies, which we VERY MUCH need. For the pile see Vlaskamp 2019, Jimenez-Gomez 2019, Smith-Hicks 2021, Wright 2022, Lyons-Warren 2022. - https://www.rarebase.org/ - Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 7 Weeks: September 12-14 in San Diego https://globalgenes.org/event/rare-patient-advocacy-summit/ - 10 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 10 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 11 Weeks: October 12-15 in OH - Child Neurology Society - 15 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 16 Weeks: November 14-15 in MA - PMC summit titled Personalized Medicine & the Patient - 18 Weeks: December 1 & 2 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 68 of #Syngap10 - July 25, 2022 #Ciitizen #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
14:18
July 25, 2022
Take time to grieve & then come back to this community to grow. #s10e67
COMMUNITY Two blogs you must read: - Charlie https://syngap.fund/charlie - MDBR https://syngap.fund/unite Vicky is also building community in LatAm, there is a reunion this weekend! https://twitter.com/VickyAArteaga/status/1544994120351059969?s=20&t=6f5x8BqfRFR5UyRvFMOc_w LEARNING Community is big, think Genetic Epilepsies, Remember the Dravet meeting?  Well now you can go too: https://dravetfoundation.org/events/dsf-conference/ - Stoke: https://www.youtube.com/watch?v=xHCYFDSwf-o - Longboard: https://www.youtube.com/watch?v=s7l7wnrEX5E - Epigenyx: https://www.youtube.com/watch?v=a-fBOr1W3Dw - Ingo: https://www.youtube.com/watch?v=JVTnkQCtQNo Check out this trial: https://pacific.researchstudytrial.com/?utm_source=other&utm_medium=Longboard&utm_campaign=patient_recruitment&r=16 FUNDRAISERS - MICE: Help us Make 2!  https://syngap.fund/2mice - BIRTHDAYS: https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - 8 Weeks: September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ - 11 Weeks: October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - 11 Weeks: October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - 16 Weeks: November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - 19 Weeks: December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818  Episode 67 of #Syngap10 - July 18, 2022 #CareAboutRare #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
10:48
July 19, 2022
Missense Variants are Finally Getting Attention.  Reclassification.  Grants.  #S10e66
Missense Variants are Finally Getting Attention. Reclassification. Grants. #S10e66 #SyngapCensus for 2q22 is 1098! https://www.syngapresearchfund.org/post/syngapcensus-2022-update-43-in-q2-2022 Incidence and Prevalence Article https://www.syngapresearchfund.org/post/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed GRANT TO COURTNEY LAB - Spread the word Twitter: https://twitter.com/JMGraglia/status/1544634675808722946 LinkedIn: https://www.linkedin.com/posts/curesyngap1_missense-collaboration-syngap1-activity-6950413553703030784-6VHG/ Facebook: https://www.facebook.com/cureSYNGAP1/posts/pfbid02JshtwTaK1eSPJ4kUy9Ga1ZrQGAyvk7DyrK1tPWk5UauYDx8mTY8ENeYCUfCnPwXEl Press Release: ​​https://www.eurekalert.org/news-releases/957967 GENETICS Missense: https://www.genome.gov/genetics-glossary/Missense-Mutation Protein Truncating: Nonsense: https://www.genome.gov/genetics-glossary/Nonsense-Mutation Frameshift: https://www.genome.gov/genetics-glossary/Frameshift-Mutation FUNDRAISERS - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 66 of #Syngap10 - July 6, 2022 #CareAboutRare #Ciitizen #Ambry #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
09:57
July 06, 2022
We are learning from the best - A read out from #DSFinDFW Conference. #S10e65
WEBINARS - Susan on Fundraising: https://syngap.fund/susan - Go to the CIITIZEN Webinar tomorrow (June 29th @ 11:30 ET) https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ FUNDRAISERS - SHARE & SUPPORT by Thursday, all funds matched in June! https://www.facebook.com/donate/435907651714018/336149052023430/ - MICE: Help us Make 2!  https://syngap.fund/2mice DRAVET WAS AMAZING - Mike’s Tweet-threads about the event - Day 1 https://twitter.com/JMGraglia/status/1540061343813885952 - Day 2 https://twitter.com/JMGraglia/status/1540339186187788289 - Day 3 https://twitter.com/JMGraglia/status/1540709603406540803 - DSF https://dravetfoundation.org/ - Conference https://dravetfoundation.org/events/dsf-conference/ - Dr. Andrade / AGE  - https://www.uhnresearch.ca/researcher/danielle-andrade - Dr. Perry & Dr. Papadelis at Cook Children’s -  Article about Perry/Cook https://www.checkupnewsroom.com/rare-disease-day-carter--many-patients-treated-cook-childrens-syngap-rare-disease-seizures/ - Dr. Perry on the Twitter: https://twitter.com/TheNotoriousEEG - Link with the Dr. Papadelis study: https://www.cookchildrens.org/services/neurosciences-research/funding/ - Longboard - https://www.longboardpharma.com/ - https://pacific.researchstudytrial.com/ - Epigenyx - https://www.epygenix.com/ - Baraban Lab https://barabanlab.ucsf.edu/ - Clemizole Tweet https://twitter.com/JMGraglia/status/1540712480975884288 EVENTS September 12-14 in San Diego - https://globalgenes.org/event/rare-patient-advocacy-summit/ October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 65 of #Syngap10 - June 28, 2022 #CareAboutRare #CureDravet #DSFinDFW #Ciitizen #LongboardPharma #Epigenyx #CookChildrens #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
13:15
June 28, 2022
Throw the doors open, build your team, tell everyone. #S10e64
Throw the doors open, build your team, tell everyone. #S10e64 TELL EVERYONE - New mom chat - Kali’s article and twitter - https://www.insider.com/my-child-diagnosed-rare-genetic-condition-syngap1-2022-6 - https://twitter.com/WorthKali - Tavillas: https://syngap.fund/susan (6/22/15) CHECK OUT THIS CONFERENCE: https://syngap.fund/treat DRUG CO NEWS - Anglemans and Ionis! https://www.prnewswire.com/news-releases/ionis-treatment-for-angelman-syndrome-receives-orphan-drug-and-rare-pediatric-disease-designations-from-us-fda-301566169.html - Praxis update: At the end, scroll down. CIITIZEN - Webinar was awesome https://syngap.fund/virginie - Sign up! https://www.ciitizen.com/syngap1/ PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Webinar: https://syngap.fund/PG - Sponsored testing with Mahzi! https://mahzi.com/ REMEMBER NOT TO MISS - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up for the EF Panel: https://bit.ly/efmen FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 64 of #Syngap10 - June 14, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Praxis #ProbablyGenetic #Mahzi Copy from letter from Praxis: Monday morning, June 6th, we published an 8K filing announcing news involving multiple programs at Praxis Precision Medicines. One of these announcements pertained to the FDA’s clinical hold on our recent IND filing for PRAX-222 in SCN2A, so we wanted to share further context for it. On May 25, 2022, the Company received a communication from the U.S. Food and Drug Administration (the “FDA”) providing additional information on the clinical hold placed on the Company’s Investigational New Drug application (the “IND”) for the study of PRAX-222, an antisense oligonucleotide, for the treatment of patients with SCN2A gain-of-function mutations. The communication indicated that our IND could be cleared once we submit additional documentation related to the preclinical non-human primate toxicology study that supports the proposed starting dose in the clinical study. We’re requesting a Type A meeting with the FDA to confirm the study design and further clarify the requirements for dose escalation beyond the starting dose. This surely will leave our SCN2A community with questions about the timing of our path forward. While the protocol and the discussions being held with the FDA remain confidential, we will do our best to maintain transparency and responsiveness throughout the process. We continue to be fully committed to advancing PRAX-222 to clinical study. We also want to restate that this news is specific to PRAX-222, without impact on our PRAX-562 program for SCN2A, SCN8A and TSC. In Monday’s press release, we reiterated our focus on driving toward proof of concept for PRAX-562. We’ll provide further updates on PRAX-562 as we approach m
12:28
June 14, 2022
Are you coming to our conference in December? Some goodies to share with your favorite #RareDad - #S10e63
CHECK OUT THIS CONFERENCE: https://syngap.fund/treat PROBABLY GENETIC IS WORKING! - Assessment: syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap/ - Testing: syngap.fund/ambit - https://www.ambitcare.com/registration-syngap-research-fund - Webinar: https://syngap.fund/PG - Thursday, June 9th at 9am PT/Noon ET/5pmBST DON’T MISS OUR NEWSLETTER - June 2022 https://mailchi.mp/syngapresearchfund.org/june22 - Sign up https://www.syngapresearchfund.org/families/newsletters - Please make sure we are not going to Spam #FATHERHOOD & RARE - Sign up for the EF Panel: https://bit.ly/efmen - https://us06web.zoom.us/webinar/register/WN_Iv8d06ffT_uDbRDXAAWKOg - SFN Dad To Dad Podcast: https://www.spreaker.com/user/specialfathers/dad-to-dad-204-mike-graglia LINKS FORM EF #PIPELINECONFERENCE 2022 - Agenda: https://www.epilepsy.com/research-funding/pipeline-conference - Kayak study for #SCN8A: https://kayakstudy.com/ - #Prax562: https://www.globenewswire.com/news-release/2022/01/18/2368578/0/en/Praxis-Precision-Medicines-Announces-Publication-of-Preclinical-Data-Highlighting-Differentiated-and-Potent-Antiepileptic-Activity-of-PRAX-562.html - $PRAX https://seekingalpha.com/news/3845864-prax-stock-on-watch-as-lead-asset-fails-in-depression-trial - Engrail: https://www.businesswire.com/news/home/20220607005544/en/Engrail-Therapeutics-Announces-Positive-Results-of-ENX-101-Phase-1b-Clinical-Study-and-Prepares-for-Initiation-of-ENACT-Phase-2-Trial-in-Focal-Epilepsy FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice EVENTS June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree December 1 in TN - Syngap Science Meeting - https://syngap.fund/treat EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 63 of #Syngap10 - June 7, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration #EpilepsyFoundation #Engrail #Praxis #Neurocrine #ProbablyGenetic #AmbitHealthcare
14:33
June 07, 2022
BONKERS week. #S10e61
OUR LEADERS ROCK - Thank you to the US Board https://www.syngapresearchfund.org/home/our-team/meet-the-team-board-of-directors - Thank you to the UK Trustees https://www.syngapresearchfund.org/home/our-team/team-srf-united-kingdom - Thank you to the EU Board https://www.syngapresearchfund.org/home/our-team/team-srf-eu - Thank you to Fondo Syngap https://www.syngapresearchfund.org/home/our-team/fondo-de-investigacion-syngap PROBABLY GENETIC IS WORKING! - https://syngap.fund/maybe - https://symptom-checker.probablygenetic.com/syngap WEBINARS - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd - 10am PT/1pm ET/ 6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th @ 9am PT/ Noon ET/5pm BST - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly was great, watch the recording! FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267 - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry. Link soon. - September 12-14 in San Diego - #GlobalGenes Meeting. Link soon. - October 8 in NJ - Caren Leib Gala - https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP - https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://syngap.fund/soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 62 of #Syngap10 - May 28, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GlobalCollaboration
12:44
May 29, 2022
Thank Goodness we have a dynamic team! Some personal news. #S10e61
LET’S FIND MORE PATIENTS (of color) - https://www.syngapresearchfund.org/syngap-warrior/ethan - https://syngap.fund/maybe -> https://symptom-checker.probablygenetic.com/syngap/ WEBINARS - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” - https://syngap.fund/Holly- Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” - https://syngap.fund/Splice - Thursday, June 2nd/10am PT/1pm ET/6pm BST - Lukas “Finding patients with Probably Genetic” https://syngap.fund/PG - Thursday, June 9th - 9amPT/Noon ET/5pm BST FUTURE IS COMING - Went to PMC last week and it was epic https://twitter.com/JMGraglia/status/1527311983069908992?s=20&t=lV5BL43vS5h8LrYlPWjbTQ #permedconf GETA was GREAT https://www.geneticepilepsyteam.com.au/conference-2022/livestream/ STOKE NEWS Tango with Ed. https://globalgenes.org/rare-cast/episode-387/ NEW GRANT in FINLAND! https://twitter.com/SyngapNetwork/status/1527660584011022336 FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! https://www.facebook.com/donate/1933159523538117/1611962155842267/ - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 61 of #Syngap10 - May 23, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis
17:14
May 24, 2022
Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising!  #S10e60
Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60 PREPRINT - SRF Tweet https://twitter.com/cureSYNGAP1/status/1524110425494745088 - Actual paper: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v2 WEBINARS - #Syngap Grandparent and USC Law Professor, Richard Peterson did an amazing job, check out his slides and watch the presentation at https://syngap.fund/IDEA - Dr. Harris “Discussing #SYNGAP1 Related Developmental Disorders” https://syngap.fund/Holly/ - Thursday, May 26th 9am PT/12pm ET/5pm BST - Dr. Rumbaugh “SYNGAP1 Splice Forms: Implications for understanding the disorder and development of therapies” https://syngap.fund/Splice - Thursday, June 2nd 10am PT/1pm ET/6pm BST FUNDRAISERS - MDBR: Join us and secure $30k matching funds https://syngap.fund/SRFMDBR22 - MICE: Help us Make 2! https://syngap.fund/2mice - MIKE: I’m matching all donations in May! - YOU: Remember to use your birthday on Facebook to do an SRF fundraiser! You get a gift card to the SRF shop as a thank you! https://www.facebook.com/cureSYNGAP1/fundraisers STORYTELLING Watch these incredible sessions from our friends at DSF. And practice telling your story. #PRAXIS NEWS Here is the thread on Praxis with the updates! https://twitter.com/cureSYNGAP1/status/1521852433713950721 #HUNTERSYNDROME - Kim’s comments: https://www.facebook.com/571178176/posts/10158874132988177/ - Press release: https://www.biospace.com/article/takeda-drops-hunter-syndrome-therapeutic-changes-tactics- GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 60 of #Syngap10 - May 13, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #HunterSyndrome #Praxis
14:56
May 14, 2022
We raise funds, make mice & they make preprints! It’s working! #S10e59
Congrats to everyone who did #Sprint4Syngap.  Thanks to Stoke for joining! https://twitter.com/StokeTx/status/1523651977594703872 WEBINAR: This Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson.  Register at https://syngap.fund/IDEA STUDY: Have you signed up for the Eye Tracking study yet? https://syngap.fund/eyetrack TWITTER: Here is the thread on Praxis: https://twitter.com/cureSYNGAP1/status/1521852433713950721 GETA: Conference, sign up to hear Ingrid & Steve: https://www.eventbrite.com.au/e/geta-2022-sydney-tickets-302049868287 MICE: Help us Make 2!  https://syngap.fund/2mice RESEARCH: Ben talking about his SYNGAP1 work: https://www.youtube.com/watch?v=U6Z4UDYgGi4 EVENTS: - June 11 in Philly - Support our team https://syngap.fund/srfmdbr22 - June 25 in DFW - Join us for a family meeting and hear from Dr. Perry - October 8 in NJ - Caren Leib Gala https://www.syngapresearchfund.org/get-involved/fundraising/caren-leib-gala - October 8 in SC - Scramble for SYNGAP https://www.syngapresearchfund.org/get-involved/fundraising/scramble-for-syngap - November 12 in GA - Sparks of Hope Gala https://www.syngapresearchfund.org/get-involved/fundraising/syngap-soiree - December 1 in TN - Syngap Science Meeting - Stay tuned EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 59 of #Syngap10 - May 9, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
13:54
May 09, 2022
Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58
Praxis included SYNGAP1 in their Epilepsy Day Press Release and indicated they expect a candidate for SYNGAP1 in 2023! https://www.globenewswire.com/news-release/2022/04/27/2430231/0/en/Praxis-Precision-Medicines-Showcases-Largest-Targeted-Epilepsy-Portfolio-in-Industry-at-2022-Epilepsy-Day.html Links mentioned -SRFRT1: https://www.syngapresearchfund.org/post/standing-room-only-at-srf-1st-annual-syngap-roundtable-srfrt -Praxis: https://praxismedicines.com/ -Steve fully dedicates his time to Praxis: https://www.globenewswire.com/news-release/2021/12/02/2344901/0/en/Praxis-Precision-Medicines-Announces-Management-Team-Appointments.html -RogCon: https://www.rogcon.com/company/#partners EVERYONE SHOULD SIGN UP FOR CIITIZEN ASAP: https://www.ciitizen.com/syngap1/ 2nd Annual Sprint4Syngap was a global success! Still time to donate: https://syngap.fund/sprint2022 and check out this thread on Twitter to see all the events: https://twitter.com/cureSYNGAP1/status/1520606983241437187 WEBINAR: Next week on Thursday May 12, 2022 join us for the Webinar with #Syngap Grandparent and USC Law Professor, Richard Peterson.  Register at https://syngap.fund/IDEA This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 58 of #Syngap10 - May 2, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
13:22
May 02, 2022
We need funding, companies and doctors. #S10e57
We need funding to make incredible science happen faster, so go listen to Dr. Anderson on Thursday and then help us raise some money on Saturday! THURSDAY Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg SATURDAY 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 I went to the bootcamp last week! https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ We need great clinicians, let us know if you find one: https://Syngap.Fund/Docs This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 57 of #Syngap10 - April 25, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
12:14
April 26, 2022
Why will companies work on #SYNGAP1? #S10e56
First, because patient data is organized, we have 172 people signed up for Ciitizen, make sure you are part of the first 200!  Sign up now at https: www.ciitizen.com/SYNGAP1 Second, because there is a credible partner to help them work with patients, researchers and clinicians, see www.SyngapResearchFund.org  ;-) We do cool things like get ICD-10 codes.  I got ANOTHER call (google #S10e48 & #S10e54) about ICD-10 codes.  We are so lucky to have this code, USE IT.  F78.A1 Third, because they believe they will find more patients and we believe that too.  Here are three ways we are working on this: First, we are working on reaching out to the communities of color to increase genetic testing for NDDs.  If you know someone who would like to support another SRF Movie, please let us know. Second, we need to resolve VUS patients.  There are too many VUS patients with SYNGAP1.  That is low hanging fruit for finding more patients. Third, our work with Probably Genetic is going well.  Over 1,750 people have taken that survey and we are going to reach out to ~80 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe Check out this wonderful video from the Kyle and Kelli channel! https://www.youtube.com/watch?v=9KKi_1QG4FU This is the article about the meeting Mike will be joining this week to represent the SynGAP community: https://www.pharmavoice.com/news/Ultragenyx-CEO-bootcamp-rare-disease-drug-development/621916/ Dates you need to know: Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 56 of #Syngap10 - April 18, 2022 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
10:12
April 19, 2022
#Sprint4Syngap is just 3 weeks away! #S10e55
Special guest host, Peter Halliburton, Development Director at Syngap Research Fund and Syngap dad. Sprint4Syngap - Learn more at http://Syngap.fund/sprint - What is Sprint4Syngap? SRF’s annual fun run fundraiser. - Create a team http://Syngap.fund/sprint2022 - Banners http://Syngap.fund/banner Fundraising For a Cause - Dr. Michael Courtney, University of Turku in Finland - $180k joint grant with Leon & Friends to focus on missense variants. https://bioscience.fi/research/neuronal-signalling-pathways/profile - Dr. Zach Grinspan, Weill Cornell Medicine -  $270k grant looking at clinical trial for drug Ravicti showing promising results in other central nervous system disorders. https://vivo.weill.cornell.edu/display/cwid-zag9005 - Rarebase will be coming back to us with a non-trivial sum for their drug repurposing screen. https://www.rarebase.org/ Questions? Reach out to Peter! peter@syngapresearchfund.org This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 55 of #Syngap10 - April 9, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  #Sprint4Syngap
06:50
April 10, 2022
LOTS OF NEWS - 1055 Patients, it’s #SyngapCensus Day! #S10e54
Census was launched today: https://www.syngapresearchfund.org/post/syngapcensus-2022-update-70-in-q1-2022  Industry news! - Fintepla for LGS!  Great news for our LGS folks. https://twitter.com/cureSYNGAP1/status/1508573464810074113  - Tevard licensed tech from Prof. Jeff Coller. https://twitter.com/TevardB/status/1509511595663282178  We announced models to two labs with RDMM and Hasan, thank you! https://www.syngapresearchfund.org/post/syngap-research-fund-srf-announces-grants-to-dr-kurt-haas-and-dr-graziella-dicristo-in-partnership-with-canadas-rare-diseases-models-and-mechanisms-network-rdmmn Thank you Julie for your help making mice, we are really having fun accelerating science.  Thank you JR, Hans and Marta for joining meetings with a company to talk about other options for SRF.  All costs $. Global: Victoria is at Dravet in Spain with Katrien from the Netherlands.  How cool is that?  Denmark is next week. BTW, remember episode 48 (google #S10e48) I got another call, the ICD-10 debacle continues.  We are so lucky to have this code, USE IT.  I had two meetings this week looking at health economics, this code is showing up and it is going to help us understand cost and find doctors.  USE THE CODE… F78.A1 Probably Genetic, our partnership there continues and good things are coming, over 1,000 people have taken that survey and we are going to reach out to 40 people who we think need to pursue testing… PUSH OUT THIS LINK: https://syngap.fund/maybe  Advice time: Build #TeamYourKid Our kids don’t get simpler or smaller Babysitters and community members who know them now are their advocates later Double up on Neuros (unless you being seen by rockstars who are close) Everyone needs a good local neuro, few have them, so keep that relationship, both for higher quality care and for someone close in emergencies. If you have the time and the insurance, it's also a good idea to also be seen by a regional medical center. This is for three reasons Second opinions never hurt The regional folks will see more patients and are in an academic setting, so they are more likely to see patterns and publish case studies. When it's clinical trial time, companies won't call local doctors, they will call regional medical centers, you want to be on their list. Reminder in last episode (google #S10e53) for all the events this year, but coming up fast: Jackie’s webinar on Severe Behaviors, Wednesday April 6th.  https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw  Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg  2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022  This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast  Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818  Episode 54 of #Syngap10 - April 1, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology  
15:32
April 01, 2022
Happy Epilepsy Awareness Day! #S10E53
Three events to plan on: Jackie’s webinar on Severe Behaviors, Wednesday April 6th.  https://us02web.zoom.us/webinar/register/WN_5ojt2t3PSCWqGROpGaxVEw Dr. Anderson’s webinar on Stem Cells, Thursday April 28th. https://us02web.zoom.us/webinar/register/WN_23J7Zy22R_-yDrz8RJHXHg 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 Here are the dates to think about for the rest of the year: https://docs.google.com/spreadsheets/d/18R8PcD5aM_HTgYJLgkzAbmzIbD5KZdF2eDP7f3P92jY/edit?usp=sharing  Thank you to #UFDTech for your fundraiser today, check it out: https://www.youtube.com/watch?v=Whkborgb-90 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 53 of #Syngap10 - March 25, 2022 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
10:36
March 25, 2022
We are starting to find lots of adult patients, what now?
SRF UK is taking off, support Trustee Ray’s fundraiser https://www.justgiving.com/fundraising/srfuk SRF Cell Line project is working! https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating!  Sign up now: https://syngap.fund/sprint2022 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 52 of #Syngap10 - March 21, 2022 #s10e52 #Ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
12:56
March 21, 2022
Putting this work in perspective…
Mike takes a break from all the updates to put things in perspective. This work is critical. This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 51 of #Syngap10 - March 14, 2022 #s10e51 #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
11:04
March 15, 2022
Another week in 5th gear, buckle up
Post RDD - Last day of Feb, b/c rarest day What did we do? Raised $25k! Newsletter went out! Read and subscribe please https://twitter.com/cureSYNGAP1/status/1498256918371917824 Jess and Ray represented the Global Team at PWC/Edinburgh https://twitter.com/Cdnchick74/status/1498275297011056644 Jansen and Kimberly were shared, and that is a win for all of us. https://variantyx.com/2022/02/25/jansens-story/ https://www.raredisease.org.uk/rduk-news/our-syngap1-story/ Announced #CouldItBeSyngap1 300+ already https://www.syngapresearchfund.org/post/syngap-research-fund-deploys-coulditbesyngap1-screening-tool-in-partnership-with-probably-genetic Webinar madness! Two down https://www.syngapresearchfund.org/webinars/the-use-of-milk-exosomes-to-increase-the-expression-of-syngap1-expression-in-syngap1-mice https://www.syngapresearchfund.org/webinars/intro-to-rare-xs-syngap1-data-collection-program -> https://syngap1.rare-x.org Two to go Saturday: https://www.syngapresearchfund.org/webinars/estrategias-para-quitar-el-panal Thursday March 10th! https://www.syngapresearchfund.org/webinars/syngap1-service-dogs -> syngap.fund/julian -> https://secure.givelively.org/donate/syngap-research-fund-incorporated/service-dog-for-julian SEVEN (7) New families this week Six welcomed today in post https://www.facebook.com/groups/376862123195518/posts/939459816935743 One not on FB, but reached out after finding us… via this podcast! Yeah. That’s right, there is a work outside of Facebook, we are on Twitter and LinkedIn and Tiktok and Youtube too! Follow us everywhere with @cureSYNGAP1 We are doing a #followfriday on Twitter, so get on that, and meet some families and share your story… you never know where those go. https://twitter.com/cureSYNGAP1/status/1499751768435175429?s=20&t=CcoXMTECIG6MZVzRo-IXqg And it’s good for studies. I could only talk about people who were in the public domain here: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant Happy Birthday Kyle! syngap.fund/kyle Follow this channel: https://www.youtube.com/c/KelliKyle Thank you to SAB and CAB We have stellar advisors, check them out: https://www.syngapresearchfund.org/home/our-team/sab and https://www.syngapresearchfund.org/home/our-team/team-clinical-advisory-board They are working hard looking at some of the seven grant proposal we received! It’s going to be a great investment in the future of our loved ones… Sprint4Syngap! 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ What else? ORCA, thank you Kali, we have one person left and then we are locked and loaded for the next phase of that important project. Great meeting with Overcome and partnering on Canadian grants. One family, older, needed a neuro and we got them hooked up in a day. Love it. One more survey, if you can for our friends at CNF: https://syngap.fund/cnf22 This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 herehttps://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 50 of #Syngap10 - March 5, 2022 #s10e50 #sprint4syngap #CouldItBeSYNGAP1 #probablyGenetic #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
19:50
March 05, 2022
Rare Disease Day is Monday! And here at SRF we can feel it all happening…
COOL START TO THE DAY https://twitter.com/cureSYNGAP1/status/1496855893324926977?s=20&t=S7QHkcWewhu0hi-I_XlQBA Grief in convo with Kali about Rare Disease Diagnosis. NEWS We dropped the Zempleni Presser!  How cool is this?  Cool enough for the Exosome Industry News to write about it https://twitter.com/ExosomeRNA/status/1496907785535049729 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni More is coming soon.  We have a few press releases in the hopper!  One just made possible by a $70k donation from Unlock Defi https://www.unlockdefi.com/ thank you so much.  Learn more about that via this interview we did in November https://www.youtube.com/watch?v=A840uoG1Wj0 PRESENTATIONS Jess is presenting on SRF to the UK Community this weekend at Edinburgh, congratulations! Marta gave a presentation at one of our Pharma partners all-staff for Rare Disease Day.  Thank you to her and congratulations.  It is powerful to talk about our disease. The Data Sharing Panel was exceptional, if you missed it, watch the recording here: https://syngap.fund/data Get your EEG Tracings!  In EDF format. Just ask them at the lab, remember you have a right to your data in all Geographies. AMAZING ASKS Profs at Oxford and McGill have reached out with exciting opportunities.  Rarebase is getting noisy.  I’m told to expect a proposal from WCM and we have one from Finland.  We need more funding… start talking to families now.  We are asking Leon and Overcome to co-fund with us too. FUNDRAISING Suzanne in GA on Sparks of Hope Julie in NC on Scramble Nancy in NJ on Gala YOU where you are on Sprint eg. Tavilla 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 49 of #Syngap10 - February 25, 2022 #datasharing #biorasi #EEG #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
10:18
February 25, 2022
Happy National Caregiver Day! #s10e48
Happy National Caregiver Day! The Data Sharing Panel next week will be epic, don’t miss: https://syngap.fund/data Tweet: https://twitter.com/curesyngap1/status/1493282864263090181 Use you ICD Codes!  F78.A1 if you want background: https://syngap.fund/icd10 - https://syngap.fund/icd11 - https://syngap.fund/F78A1 SRF Case Study here: https://ICDCodeRoadmap.org Get your EEG Tracings!  In EDF format. Make sure you connect with us to be connected with the community, either on our reg page or on Facebook: https://syngap.fund/fb goes to https://www.facebook.com/groups/syngap https://www.syngapresearchfund.org/families/connect-with-us Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 Zempleni Webinar: Milk exosomes to increase the expression of SYNGAP1 in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! Sign up now: https://syngap.fund/sprint2022 Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 48 of #Syngap10 - February 18, 2022 #datasharing #biorasi #EEG #ICD10 #F78A1 #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
10:58
February 18, 2022
It’s all coming together - data, trials, research. Time is now to join in!
 The ABN webinar was solid, watch it here: https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet Remember the Poduri grant, here is the press release if you don’t: https://www.biospace.com/article/releases/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-children-s-hospital/ Sign up for Ciitizen, make sure you are included: https://ciitizen.com/Syngap1 2nd Annual #Sprint4Syngap is coming April 30, 2022, help us raise funds by starting a team and/or donating! - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ Reminders: - Great webinar coming up: the use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni - This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast - Apple podcasts: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818 Episode 47 of #Syngap10 - February 14, 2022 #trialdesign #braindonation #ciitizen #SYNGAP1 #Syngap #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
11:24
February 15, 2022
You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.
You can’t do this alone, don’t try.  But do Plan.  Lots of planning from SNTs to Brain Donation to Service Dogs. HEADLINE: YOU CAN'T DO THIS ALONE, DON’T TRY -Please don’t try to muscle raising a SYNGAP1 child, connect with the community, share tricks, joys and sorrows.  We cannot do this alone. PLANNING One parent just asked how to think about planning for the future, here is what I said. SNT (special needs trust) and Life Insurance payable to the trust, this is more affordable than you think. The desire not to burden your other kids is natural, but not always helpful.. Look at Nancy, just watch https://syngap.fund/caren All of our kids will need state services throughout their life if we don't get a therapy into their brains (this is what SRF works on). And even then they will need support, but less. Our kids don't get less complicated, I think you have signed up for Ciitizen, but whoever cares for your loved one will be so grateful that you have put all his medical records in one place. https://ciitizen.com/Syngap1 Get to know this community, we have a STRONG SRF Crew having other families close is huge. Not to mention they know the rules in your state (see #3a). WEBINARS -An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN -The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni SERVICE DOGS SRF works with Meridus K9, if you are interested, please reach out to Cecilia! https://www.meridusk9.com/ FUNDRAISING IS ALWAYS IMPORTANT - https://syngap.fund/hopeforhadley $12.5k - https://Syngap.fund/joinforjackson $800 - https://Syngap.fund/raylan 2nd Annual #Sprint4Syngap is coming April 30, 2022. - Sign up now: https://syngap.fund/sprint2022 - Get a shirt: https://www.bonfire.com/sprint-for-syngap-2022/ THIS IS A PODCAST - SUBSCRIBE! - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 46 of #Syngap10 - February 7, 2022 #servicedogs #braindonation #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
09:54
February 07, 2022
Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.
Old School Syngap10 - Lots of great content in 10 minutes.  Fundraising. Blogs. Webinars. Patient stories. Ciitizen. IT ALL TAKES MONEY - Emily’s Fundraiser #HopeForHadley https://secure.givelively.org/donate/syngap-research-fund-incorporated/hope-for-hadley - 2nd Annual Sprint for Syngap is coming April 30, 2022. WEBINARS - La intención comunicativa en SYNGAP1 el sábado 5 de febrero | 9am Miami / 3pm Madrid https://syngap.fund/intencion - An Introduction to Autism BrainNet Thursday, February 10 @ 9 am PT/12 pm ET https://syngap.fund/ABN - The use of milk exosomes to increase the expression of SYNGAP1 expression in SYNGAP1 mice March 3, 2022 @ 9am PT/12pm ET https://syngap.fund/zempleni BLOGS - Diapers: https://www.syngapresearchfund.org/post/diapers-pull-ups-for-older-kids-a-moms-experience - Missense: https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344 - https://www.genome.gov/sites/default/files/tg/en/illustration/missense_mutation.jpg MUTATION STORIES - c.3583-6G>A Europe and East Coast, connected! - c.333del and c.490 C>T Facebook Groups - Data https://docs.google.com/spreadsheets/d/13dAPdXJnF-ST4lJnKrgxEJ_03e7shyXg7jwiqeXSR7c/edit?usp=sharing CIITIZEN - Privacy https://ciitizen.com/privacy - Sign up https://ciitizen.com/SYNGAP1 - Nobody does it better. EXTRA CREDIT - Gene Fixers was VERY GOOD.  Here is the replay.  This is worth a listen. www.clubhouse.com/room/m26dGYr4?utm_medium=ch_room_xerc&utm_campaign=RgMbPQTckJlMoxenxVxCiQ-38225 REMEMBER - Raise funds at https://syngap.fund/give - Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 45 of #Syngap10 - January 28, 2022 #braindonation #specialneedsdiapers #missense #ciitizen #privacy #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
10:07
January 28, 2022
Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)
Read Paediatric Neurologist, Clinician-Scientist, Laureate Professor Ingrid Scheffer, AO’s piece in the Lancet Neurology: https://www.thelancet.com/journals/laneur/article/PIIS1474-4422(22)00002-3/fulltext Here is the quote Mike read: “It will not be feasible to design a gene therapy for each pathogenic variant of every genetic disease, so clever strategies, such as those mentioned earlier, will need to be developed to enable these life-changing therapies to reach a wide variety of patients. The future of child neurology is bright—indeed, far more promising than at the turn of the 21st century. Many devastating diseases now have real hope of targeted therapies, which can cure not just one but all manifestations of the disease and offer the child and family the promise of a normal life.” SRF article on IPSCs: https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments SRF article on reading your genetic report: https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease SRF article on VUS: https://www.syngapresearchfund.org/post/does-your-genetic-report-contain-a-variant-of-unknown-significance-vus-in-syngap1 REMEMBER Raise funds at https://syngap.fund/give Subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 44 of #Syngap10 - January 21, 2022 #missense #SYNGAP1 #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
20:25
January 27, 2022
Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1
BIG NEWS! https://www.businesswire.com/news/home/20220110005334/en/ FIVE KEY LINKS - Dr. Kaye’s presentation - Listen to it again and again https://investor.stoketherapeutics.com/events/event-details/40th-annual-jp-morgan-healthcare-conference - AES 2018 Poster https://www.stoketherapeutics.com/wp-content/uploads/Stoke-Poster-Dec-1.pdf - STOKE Patent https://patents.google.com/patent/WO2017106377A1/en - #OneYearSooner - How we can make clinical trials happen faster https://www.syngapresearchfund.org/post/oneyearsooner - Sign up for Ciitizen - www.Ciitizen.com/SYNGAP1 SPREAD THE WORD Twitter.com/cureSYNGAP1/status/1480546972645793794?s=20 Linkedin.com/feed/update/urn:li:activity:6886314132866506753 Facebook.com/cureSYNGAP1/posts/946801809535615 WHO IS WHO AT STOKE https://www.cshl.edu/research/faculty-staff/adrian-r-krainer/ PhD Harvard 1986 https://www.linkedin.com/in/huwnash/ PhD Harvard 1997, EIR ATP since 2014 https://www.oligotherapeutics.org/officers/isabel-aznarez-ph-d/ PhD Toronto 2006 https://www.linkedin.com/in/barryticho/ MD PhD Chicago https://www.linkedin.com/in/edward-kaye-0a46a710/ MD Loyola Chicago COMPANIES Stoke https://www.stoketherapeutics.com/ $ACAD Acadia https://www.acadia-pharm.com/ $STOK OTHER GREAT LINKS DSF on the Monarch https://www.dravetfoundation.org/wp-content/uploads/2020/04/Stoke-Community-FAQ-April-2020.pdf  It starts with Spinraza https://www.ninds.nih.gov/About-NINDS/Impact/NINDS-Contributions-Approved-Therapies/Nusinersen-Spinraza%C2%AE-%E2%80%93-Spinal-Muscular aka https://en.wikipedia.org/wiki/Nusinersen  Grant made in 2003, Phase 1 in 2011 (dec) FDA approval in 2016 (Dec) https://www.curesma.org/fda-approves-spinraza-for-sma/  From: https://www.bizjournals.com/boston/news/2018/01/04/ex-sarepta-ceo-takes-helm-of-genetic-disease.html Stoke Origins: https://endpts.com/gene-therapy-startup-stoke-therapeutics-secures-another-90m-in-series-b-funding/ $40M from ATP in 2018. https://www.appletreepartners.com/portfolio#stoke-therapeutics  IPO June 2019 $163M/ https://www.spglobal.com/marketintelligence/en/news-insights/trending/OTV6RnpzTCGYyRs_gx1m7A2  REMEMBER Raise funds at https://syngap.fund/give  Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a  Episode 43 of #Syngap10 - January 14, 2022   #StokedAboutStoke #ASO #SYNGAP1 #AcadiaPharma #StokeTx #F78A1 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
14:22
January 14, 2022
How to tell your family about SYNGAP1
How to tell your family about SYNGAP1 As you process your loved ones’ recent SYNGAP diagnosis, when do you tell your family?  How? When?  As soon as you can! How, well that’s what we talk about today: This is a big deal, let’s not minimize it. I need you help Learn with me Fight insurance with me Help me rearrange my life Help with my SYNGAPian or their siblings Jump into my life, don’t give me space Raise funds with me to help bring therapies and cure closer to reality - Raise funds at https://syngap.fund/give - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 42 of #Syngap10 - January 7, 2022 #family #thetalk #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
09:58
January 07, 2022
2021 by the numbers, 985 patients counted, exciting work ahead!
2021 by the numbers, 985 patients counted, exciting work ahead! - Mike quantifies the work of SRF in some statistics, it’s been three years: https://syngap.fund/2021numbers - The #SyngapCensus is at 985! https://syngap.fund/census - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are at 154 in the US! - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a Episode 41 of #Syngap10 - December 31, 2021 #phenylbutyrate #F78A1 #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
11:06
December 31, 2021
Let’s catch the Genetic Therapy Tsunami for SYNGAP1!
Let’s catch the Genetic Therapy Tsunami for SYNGAP1! Episode 40 of #Syngap10 - December 17, 2021 - Dennis’ tweet: https://twitter.com/LalDennis/status/1469502987173310466 - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 We are over 150! - Clinical Trials link showing adult enrollment for Angelmans. https://www.clinicaltrialsregister.eu/ctr-search/trial/2019-003787-48/NL - ORCA Work, learn more about it: https://populationhealth.duke.edu/research/center-health-measurement/expanding-observer-reported-communication-ability-orca-measure - Learn about the Lighthouse: https://www.linkedin.com/posts/graglia_thelighthouse-activity-6877396385088471040-_ia_ & https://effieparks.com/podcast/episode-094-mike-and-nasha - Add to the schedule June 11, 2022 -- Million Dollar Bike Ride! https://www.milliondollarbikeride.org/ - Emmitt got a #VNS https://twitter.com/SydneyStel/status/1470766587795972096 - phenylbutyrate - https://www.statnews.com/2021/06/03/parents-hoped-an-existing-drug-might-keep-their-kids-from-having-seizures-then-they-saw-the-price/ - https://www.biorxiv.org/content/10.1101/2021.12.08.471799v1.full.pdf - https://www.clinicaltrials.gov/ct2/show/NCT04937062?cond=slc6a1&draw=2&rank=1 - Start at 40:40 https://vimeo.com/610301620 - Raise some money! https://srf.salsalabs.org/srfdidyouknow - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 if you want a direct link for Apple: https://syngap.fund/10a #phenylbutyrate #MDBR #Syngap #Syngap1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
09:59
December 18, 2021
This is Real Life! Science is moving forward and we are on board
Episode 39 of #Syngap10 - December 10, 2021 - Isoform paper https://www.biorxiv.org/content/10.1101/2021.12.05.471306v1 - Treatment one year sooner https://www.syngapresearchfund.org/post/oneyearsooner - Syngap merch https://www.syngapresearchfund.org/shop - SRF’s Blog https://www.syngapresearchfund.org/blog - Fundraise https://syngap.fund/give - Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #TalentTuesday #volunteer #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
10:21
December 11, 2021
Let’s make sure SYNGAP1 is cured in our lifetime. It’s up to us.
Let’s make sure SYNGAP1 is cured in our lifetime.  It’s up to us. Episode 38 of #Syngap10 - December 4th, 2021 Roundtable 3 #SRFRT3 was a great success, special thanks to all speakers. The #FAST #Angleman meeting is incredible. https://cureangelman.org/events/gala2021 Sign up for #Ciitizen. https://Ciitizen.com/SYNGAP1 Raise funds for SYNGAP1 - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #FAST #Angelman #SRFRT3 #SyngapaseRT #Syngap1 #syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
09:59
December 04, 2021
Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional
Episode 37 of #Syngap10 - November 26th, 2021 Support SRF this GivingTuesday! With guest host, Caitlin Kaspar, Syngap sibling, nonprofit professional - Getting diagnosed with Syngap1 as an adult - It’s a fact; nonprofits have overhead    - SRF founders cover all overhead! www.syngapresearchfund.org/post/7-reasons-smartdonors-fight-syngap1-via-srf    - SRF is all about transparency syngap.fund/finance    - SRF has 600K out in grants in 2021 syngap.fund/grants - End of Year Giving - Shop and donate at Amazon Smile bit.ly/SRF_Smile - GivingTuesday Nov 30 syngap.fund/gt21 - End of year giving letter created for families to share syngap.fund/eoy #overhead #ciitizen #givingtuesday #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
09:47
November 27, 2021
Grateful for the incredible SRF team/family...
Top 5: 10 to go! https://syngap.fund/NHS or https://www.ciitizen.com/syngap1/ https://syngap.fund/gt21 https://syngap.fund/rt3 Studies: ORCA - Full FRAZIER - email Corey@syngapresearchfund.org SIGN UP ALL ONLINE https://syngap.fund/adults and email Lauren@syngapresearchfund.org Old Guard: Aaron, Olga, Rebecca, Virginie, Hans https://www.syngapresearchfund.org/post/meet-the-globalvillage-of-syngapleaders by Jo! Marta, Vicky, Peter, Kali, Summer Pavel, Nancy, Sydney Tavillas Lauren Perry New wave of leaders: Alexis https://syngap.fund/naya Corey Baysden Jen & Dan Robert Suzanne Jones Caitlin Kasper Ashley Frye GET YOUR CARDS! Minted.com FUNDRAISESYNGAP (edited) Episode 36 - November 19th, 2021 https://www.syngapresearchfund.org/syngap10-podcast #grateful #studies #ciitizen #givingtuesday #SynapseRT #adultswithdisabilities #leadership #careaboutrare #GlobalGenes #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
09:58
November 20, 2021
Our kids will live long lives and do beautiful things, let’s make sure we help them as much as possible.
Episode 35 of #Syngap10 - November 12th, 2021 HOLIDAY GIFTS - GET SRF #MERCH 5 days left to order Hoodies, T-shirts, other gear: - https://syngap.fund/LHC or https://syngap.fund/BKC - Get your holiday cards at Minted.com and use code FUNDRAISESYNGAP FOUR STUDIES are enrolling now/soon: - Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to info@syngapresearchfund.org to participate.  Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting.  Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - We have less than 20 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 CRYPTO - Jack Shi interview on https://twitter.com/cureSYNGAP1/status/1459165110862168066?s=20 https://www.linkedin.com/feed/update/urn:li:activity:6864944054384279552 https://www.facebook.com/cureSYNGAP1/posts/910882546460875 - Donate Crypto to SRF  https://syngap.fund/block HELP US RAISE FUNDS FOR SYNGAP - Facebook Fundraisers: http://syngap.fund/FBFun - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #NFTs #crypto #unlockdefi #Bonfire #minted #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
09:53
November 12, 2021
Multiple studies enrolling now, start with Ciitizen and keep going...
Episode 34 of #Syngap10 - November 5th, 2021 - 3rd Annual Synapse Roundtable will be Dec 3, 2021, sign up at https://syngap.fund/rt3 - We have 22 spots left in this cohort of Ciitizen, sign up in the next 10 days: https://Ciitizen.com/SYNGAP1 -Three more studies are enrolling now/soon: -Dr. Andrade - Watch the video and let us know if you have an adult who would like to participate. https://youtu.be/WyhRDePe0Jc - Dr. Frazier - Reach out to info@syngapresearchfund.org to participate.  Here is the webinar. https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - ORCA - Once we get the greenlight from FDA we will start recruiting.  Here is a link with more info: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant - Great newsletter, make sure to read it: https://syngap.fund/Nov - Giving Tuesday Fundraiser: https://syngap.fund/gt21 - ICD-10 Code: https://syngap.fund/F78A1 ICD11 Effort: https://syngap.fund/ICD11 - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 - Happy GC Awareness Day! #SynapseRT #F78A1 #ICD10 #ICD11  #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics
10:40
November 05, 2021
Gather and connect. Learn from those who have come before. Keep hope alive!
Episode 33 of #Syngap10 - October 29th, 2021 Caren Leib Gala was an epic success - #SRFGala - syngap.fund/gala Partnering with Dr. Danielle Andrade in Toronto who is including SYNGAP1 in gene study and is looking for at least 30 families with adult Syngapians. It’s a huge opportunity. https://www.uhnresearch.ca/researcher/danielle-andrade Be hopeful- there is a lot of progress happening below the surface and we have more coming! syngap.fund/grants Support SRF - syngap.fund/give What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10  #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #SRFGala
09:45
October 30, 2021
Gala. Webinar. Crypto SunBlocks. ICD 10 AND 11. Thank you. Sign up for Ciitizen by 11/15/21.
Happenings Tomorrow is the GALA https://syngap.fund/gala In two Thursdays! Investigating the functional single cell biology of SYNGAP1 pathways Thursday, November 4th Register: http://Syngap.Fund/mc NOW (Crypto Art Auction) https://syngap.fund/sungap ICDs & Medical Care - Corey ICD-10 issue https://syngap.fund/F78A1 - ICD-11 is happening too!  Not kidding: https://www.syngapresearchfund.org/post/icd-11-is-coming-soon-and-we-need-your-help - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors Thank yous - Thank you to Ashley and Forbes for giving SRF some air time! https://www.forbes.com/sites/kevindowd/2021/10/20/after-helping-pfizer-speed-up-its-vaccine-trials-saama-strikes-a-430-million-deal-with-carlyle/ - Thank you to Ira for the opportunity, longer interview today on Potential, Progress, Possibilities, on https://syngap.fund/mike  or directly at https://youtu.be/RGnStUPmUkI - Spectrum for featuring two SRF Grantees work. https://www.spectrumnews.org/news/autism-linked-gene-syngap1-molds-synaptic-plasticity-learning/ - Thank you to Jansen’s parents for going big on this fundraiser: https://syngap.fund/Jansen $90k+ Data Deadlines - Sign up for #Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 etc. - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here https://syngap.fund/10 #F78A1 #ICD10 #ICD11 #Syngap1 #SYNGAP #SUNGAP #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics Episode 32.
10:28
October 22, 2021
Episode 31 of #Syngap10 - October 15th, 2021
Coming in hot!  BCH Grant putting Ciitizen to work & the Gala is next week! Episode 31 of #Syngap10 - October 15th, 2021 - We just gave BCH a large grant to work on #SYNGAP1 #ciitizen data, thanks to all our donors, press release: https://www.syngapresearchfund.org/post/syngap-research-fund-announces-308-000-multidisciplinary-biomarker-grant-to-boston-childrens-hospital - Sign up for Ciitizen, we have until November 15 to be in the next release: https://www.ciitizen.com/syngap1 - Huge thanks to UFDtech for the #UFDcure Cannonball, $151k! https://www.justgiving.com/fundraising/ufdcure - Consider donating to our fundraiser for RareBase syngap.fund/RB. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser, SRF Director Nancy Kessler and co-founder Ashley Evans will be speaking. syngap.fund/gala - December 3rd is the third annual SYNAPSE Roundtable #SynapseRT https://www.Syngap.fund/RT3 - What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
10:11
October 15, 2021
Inspiring your community and raising awareness for SYNGAP1 - Episode 30 of #Syngap10 - October 8th, 2021
- Cannonball’s last day TODAY. Three dads driving across the US. syngap.fund/cb - Family fundraiser: syngap.fund/jansen - Consider donating to our fundraiser for RareBase. syngap.fund/rb - SYNGAP1 Patient Voice Publication. syngap.fund/pvp #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
10:01
October 08, 2021
F78.A1 is the ICD-10 code for 883 SynGAPians today! #UFDcure Cannonball in 5 days! - Episode 29 of #Syngap10 - October 1st, 2021 with guest host, Ashley Frye
- Go see the SRF TikTok account: syngap.fund/tiktok. - Find us everywhere at our handle @curesyngap1. - It's October 1! #SYNGAP1 ICD-10 code F78.A1 is live TODAY. Ask all your clinicians to start using it. syngap.fund/F78A1 - Cannonball 5 DAYS . 3 dads driving across the US syngap.fund/cball #UFDcure. - Consider donating to our fundraiser for RareBase syngap.fund/RB. - #SYNGAP Census! There are 883 diagnosed Syngapians worldwide. This is +75 in the last 3 months. Learn more at syngap.fund/census. - Medical Considerations Guide is up! www.syngapresearchfund.org/families/doctors. - Oct. 23rd is the gala & auction in NJ. Dr. Ben Prosser and co-founder Ashley Evans will be speaking. syngap.fund/gala - October Newsletter: read it here: syngapresearchfund.org/news. - Sign up for this 10 minute #podcast #SYNGAP10 here syngap.fund/10 #F78A1 #ICD10 #UFDcure #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
09:21
October 01, 2021
Keep growing our community, we need each other - Episode 28 of #Syngap10 - September 24th, 2021
- Correction: Last week, reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won and easier to finish for everyone. - Big thought: Complex Population, about to get more complex, "Post-Intervention" - Sign up for Ciitizen: https://www.ciitizen.com/syngap1/ - Remember that Duke presentation, here it is: https://www.syngapresearchfund.org/post/combinedbrain-duke-university-team-up-to-receive-a-prestigious-fda-grant/ - Next week, lets' get connected Global Genes Conference https://globalgenes.org/event/rare-patient-advocacy-summit/ - Simons Searchlight in Spanish, English is still being scheduled: https://syngap.fund/SimonsSearchlight/ - Interesting paper on #SYNGAP1 and Sleep, the best part is the suggestion at the end to use this for a clinical endpoint! https://twitter.com/cureSYNGAP1/status/1439825860245090306?s=20 - Not Alone Coloring Book! https://syngap.fund/notalone - Cannonball 11 DAYS . 3 dads driving across the US https://syngap.fund/cball #UFDcure - Go to the GALA! 29 DAYS! https://syngap.fund/gala - Easy to do https://syngap.fund/GNP - Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR - Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 - What is #SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
10:10
September 24, 2021
Rarebase explained and who is going to win the race, we don‘t care - Episode 27 of #Syngap10 - September 17th, 2021
Rarebase (explained) and also, they helped us find another another family.  Here is the press release: https://www.rarebase.org/post/rarebase-launches-a-neuroscience-drug-discovery-platform-collaborating-with-15-rare-disease-patient-organizations #FUNCTION #RareBase Cannonball 18 DAYS did you see this article? https://thealmanac.net/news/upper-st-clair-resident-plans-to-livestream-cross-country-ride-for-charity/article_09570da8-119f-11ec-b1a1-fbe2d9f2526a.html 3 dads driving across :us: and focusing on endurance, can you sponsor? https://www.syngapresearchfund.org/cannonball #UFDcure Billy shoes: 10% off with https://Syngap.Fund/Billy watch our interview at https://youtu.be/mAz1PT_JziE Company conversations: Q-State Pipeline Reminder, we are here to clear the path for whomever wins, we don't care who wins we want this race to be won. Have you bought your tickets to the Gala yet? 35 DAYS! https://www.syngapresearchfund.org/gala San Filippo has a 10 min podcast and we love it.  Honestly, it's been a great way to connect and I urge everyone to try it out. #SYNGAP1 #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAP #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #epilepsy #autism #geneticcounseling #raredisease #Podcast #SYNGAP10 
10:37
September 17, 2021
The future is coming, let’s build it! - Episode 26
#SYNGAP10 - Episode 26 - September 10th, 2021 - The future is coming, let’s build it! A wonderful letter from a parent “on an island” that reminded us of the  https://Syngap.fund/lens with http://joashline.com/ made my week. Digital Lighthouse concept in the 12 Commandments Interview with Effie: https://effieparks.com/podcast/episode-094-mike-and-nasha First principles, we are here to change the future and help each other. The future is coming: Invitae & Ciitizen Read this FAQ https://www.ciitizen.com/announcement/ Sign up for Ciitizen https://ciitizen.com/syngap1 We make the future by raising funds and building community, that is happening twice over with #UFDcure Cannonball & Care Leib Gala. https://syngap.fund/cball -> https://www.syngapresearchfund.org/cannonball 25 Days, https://syngap.fund/gala -> https://www.syngapresearchfund.org/gala 43 days (19 for tix) Two big announcements next week, it's going to be great and I will also go over money. Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics #ciitizen #invitae You can ignore this M9pjBv6Mq6gJNXNdZl5q
10:02
September 10, 2021
#SYNGAP10 - Ep. 25 - September 3rd, 2021 - Hope is the smartest move
-That incredible webinar https://Syngap.fund/ana was a source of hope! -The newsletter came out yesterday; it’s really good: https://syngap.fund/sept -Families in the US, UK, Canada & Australia are reminded to sign up for the largest collection of SYNGAP1 data on earth for free: https://ciitizen.com/syngap1 -Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR -Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 -What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 #F78A1 #ICD10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
09:57
September 03, 2021
#SYNGAP10 - Ep. 24 - August 27th, 2021 - Two conversations with the same conclusion...
#SYNGAP10 - Episode 24 - August 27th, 2021 - Two conversations with the same conclusion... Next Webinar: https://Syngap.fund/ana  Sept 2 at 10 am. PST Two conversations with the same conclusion, sign up for Ciitizen https://ciitizen.com/syngap1 Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR  Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
09:51
August 28, 2021
#SYNGAP10 - Ep. 23 - Telling our story and why it matters
Eduardo webinar was amazing, it's on FB Live and we will have the YouTube up soon.  Remember to register for Ana in September https://Syngap.Fund/Ana SYNGAP1 is on the Compassionate Access List (CAL) for the SSA.  This just happened and it's due to the work of one of our families, thank you!  https://Syngap.Fund/SSA Great scientist conversations this week. New researcher looking into SYNGAP1, connecting with local families Rockstars reviewing a multi-gene grant One senior scientist called to say he's got Fish and we should let people know. Stories I will tell to help bring home how not simple this life is. Jadyne https://www.facebook.com/whatweneedyesterday Kyle https://www.youtube.com/channel/UCCbBNmkHLwba--nQ8LX0WCQ Carter https://www.youtube.com/watch?v=f6DsFUz-6HM Emmitt https://www.youtube.com/watch?v=tOampbK0uy0 Amelia https://www.youtube.com/watch?v=gvwJqF_kuBI What is SYNGAP1?  https://www.syngapresearchfund.org/home/what-is-syngap1 Donate to our current effort for Clinical Trial Readiness https://Syngap.Fund/CTR Sign up for this #podcast #SYNGAP10 here https://syngap.fund/10 #Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #Genetics #Pediatrics
10:35
August 20, 2021
#SYNGAP10 - Episode 22 - August 13th, 2021 - Webinars, mugs, Blog, GCs, Ciitizen, Cure, OUAG, CTR
- Webinars -https://Syngap.fund/eduardo  August 19 at 10 am PST -https://Syngap.fund/ana  Sept 2 at 10 am PST - Mugs mugs mugs -https://twitter.com/AAledo/status/1426207246149636099 - Blog: Genetics article is a must read for new families - https://www.syngapresearchfund.org/post/what-should-i-ask-in-my-genetics-appointment-for-syngap1 - Genetic Counselors - Tell me about your experience - What do they need to know? - Hug them - Ciitizen - Count 110 + 12, let's keep going, 28 spots left! - Panel https://www.facebook.com/cureSYNGAP1/videos/221755526409431/ - Sign up https://ciitizen.com/syngap1 - Cure - Rarebase article https://www.rarebase.org/post/what-does-it-mean-to-find-a-cure-for-a-disease - See episode 19. Yes, we need to reach for this - We may not know what is coming, but we need to work for it - One Upon a Gene - 94 https://effieparks.com/podcast/episode-094-mike-and-nasha - 41 https://effieparks.com/podcast/episode-41-syngap-research-fund - Cures go through clinical trials. Get ready: https://syngap.fund/ctr - $36k!
14:03
August 16, 2021
#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything!
#SYNGAP10 - Episode 21 - August 2, 2021 - Connection is everything! -Thank you for all the connections this week!    -San Diego with the Harding Family         -https://www.facebook.com/groups/SyngapResearchFund/posts/810210336527359     -New Jersey with Nancy Lieb Kessler         -https://www.thesandpaper.net/articles/genetic-testing-solves-a-familys-medical-mystery/    -Ashley in Boston        -https://twitter.com/SYNGAP1mom/status/1420457356836495360  -Juan and Vicky did a wonderful video!      -https://www.youtube.com/watch?v=T_W_3IuJCrI       -https://fb.watch/78guUyW3pp/  -Support our current effort at https://syngap.fund/CTR  -Subscribe to this podcast at https://syngap.fund/10
10:02
August 03, 2021
#SYNGAP10 - Episode 20 - July 23, 2021 - - Great things afoot!  Join us.
Thank you to you know who you are, & welcome to three new families this week! https://syngap.fund/CTR is happening, worked on data this week https://ciitizen.com/SYNGAP1 sign up, we are filling cohort 3! Next grant on drug discovery is already in the works A few announcements Wed July 28 - San Diego, see you next week Sunday August 1 - Gathering in Jersey Tuesday August 24 - UC Davis meet the researchers Interested in getting a service dog? https://www.meridusk9.com/ Make sure you track us on social: @cureSYNGAP1 on all platforms Look for a cool podcast on August 5th with Mike & Nasha, be sure to follow OUAG: https://effieparks.com/podcast
09:60
July 23, 2021
#SYNGAP10 - Ep. 19 - Let’s @cureSYNGAP1
-Working with Duke on the ORCA, let us know about your SYNGAPian here https://syngap.fund/comms -Ciitizen, we are in the 3rd cohort, sign up quick: https://ciitizen.com/SYNGAP1 -Still fundraising for https://syngap.fund/ctr -All social media is now on @cureSYNGAP1    -https://Facebook.com/cureSYNGAP1   -https://Twitter.com/cureSYNGAP1   -https://Linkedin.com/company/curesyngap1   -https://Instagram.com/curesyngap1   -https://Tiktok.com/@curesyngap1   -https://YouTube.com/c/@cureSYNGAP1   -Yep, we said it, and we mean it. -Subscribe to this podcast at https://syngap.fund/10
10:18
July 16, 2021
#SYNGAP10 - Ep. 18 - "Seizures, Communication, Behavior, Sleep, Other" Is that right?
https://Syngap.Fund/CTR - $26k and growing. Birthday Fundraisers, $25 per $250, we will find and thank you! https://Syngap.Fund/blog - Make sure to read the latest on variants Events: Webinar & Meetups https://syngap.fund/webinar - Next week, Saturday, July 17th @ 9 Pacific. San Diego Family Meetup - SRF Syngap Meet-Up, July 28th @ 3 pm, Details in SRF NA Group. Beach Haven, NJ Meetup - August 1st  11-5, details in the SRF NY Group. Caren will come! https://Syngap.Fund/caren t-shirts. 121 Warriors - https://syngap.fund/warrior - Egypt, Texas, Quebec & Argentina.  Great work. We are working on a poster for a meeting, stay tuned, we are learning it’s not easy to explain this life… a couple of stories Order of Symptoms 8 weeks from Seizure to Dx in Ireland, wow, 3.5.  Great work Temple St, Dublin. Meds overload.  Always check levels and loop with doctors…
10:42
July 10, 2021
#SYNGAP10 - Episode 17 - 2 July 2021 - Let’s get to work for these 808 kids!
#SYNGAP10 - Episode 17 - 2 July 2021 - Thanks for listening, now please share! - Newsletter: https://Syngap.Fund/July - Census: https://Syngap.Fund/Census Honestly, it’s low.  Remember Covid. - Frazier: 7/17 9 AM https://www.syngapresearchfund.org/webinars/improving-the-assessment-of-syngap1-by-creating-online-measures-for-parents-and-patients - Palma: 8/19 10 AM https://www.syngapresearchfund.org/webinars/interpretation-of-syngap1-variants-srf - Just talking yesterday to someone who redid testing: Genetic Testing needs to be updated every few years. - July 1 paper: “We strongly recommend that ES/GS be considered as a first- or second-tier test for patients with CA/DD/ID.” https://www.nature.com/articles/s41436-021-01242-6 - Time for some fundraising: https://Syngap.Fund/CTR Deal done, Board reviewed. Post-docs staffed.  Let’s make it happen… everyone can help. - Remember, SRF is the best deal ever: https://syngap.fund/smartdonors - Subscribe at https://syngap.fund/10
10:36
July 02, 2021
#SYNGAP10 - Episode 16 - 25 June 2021 - Put your mask on first.
#SYNGAP10 - Episode 16 - 25 June 2021 REMINDER - Put your own mask on first. THANKS - #syngapLOVE photos were great, check out our header image THANKS - DISORDER Channel - Thank you for Dad’s mention. https://www.facebook.com/rarediseasefilmfestival/videos/924558798278718 GIVE - https://Syngap.Fund/CTR - We need to raise some money folks! WORK - Fundraisers are getting real, need to organize some events, email Peter@syngapresearchfund.org PROGRESS - Ciitizens got gift cards!  Yeah, sign up now.  Ciitizen.com/SYNGAP1 STORY - ICD-10 Story of two codes: F78.A1 is our one and only code. https://syngap.fund/icd10
10:13
June 25, 2021
#SYNGAP10 - Ep. 15 - 18 July 2021 - Splash & #SYNGAPlove in 3 days, DSC & BCH Grants, more ICD attention!
#SPLASH4SYNGAP is on MONDAY. 3 days until June 21st! Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Use hashtag #SYNGAPlove & #Splash4SYNGAP DSC & BCH - It’s go time!  Let’s raise some funds. Read the blogs Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development ICD-10 EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Dravet Business Cards.   Copying is great!  Copy us. ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner ORCA: Via CB we are in.  Stay tuned here.  SYNGAP1 is one of the validation teams Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases GRANDPARENTS group is going strong Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific.
10:07
June 18, 2021
#SYNGAP10 - Ep. 14 - 11 June 2021 - Community and #SYNGAPlove
- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove COMMUNITY - I don’t want the questions. It’s hard to go out in public, our kids are so damn cute. - Connecting on a gene/geno pheno.  https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease BLOGS - Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1 - SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1 UPENN - Thx Dr. Heller for your impressive progress report! - Speaking of UPenn! #MDBR21SRF tomorrow!  Thanks Aaron Harding and support the team at Syngap.Fund/GIVE - Coba Press Release https://syngap.fund/coba2 - #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF - Sign up for Ciitizen: Ciitizen.com/SYNGAP1
10:23
June 12, 2021
SYNGAP10 - Ep. 13 - The things we do for LOVE!
Birthday Fundraiser was a great success! https://syngap.fund/m46 Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Learn more at SyngapResearchFund.org
10:06
June 04, 2021
SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!
Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast We are making IPSCs!  https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Join the largest SYNGAP1 study on earth https://syngap.fund/nhs Learn more at https://syngap.fund/rarex Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars - https://syngap.fund/aten Thurs June 10th @ 10 PST - https://syngap.fund/drtf Sat  July 17th @ 9 PST - Learn more at https://syngap.fund/FrazierPR - and https://syngap.fund/Frazier My birthday fundraiser, please give, I will match every dollar: https://syngap.fund/m46
10:11
May 28, 2021
SYNGAP10 - Ep. 11 - May 21st, 2021 - We must be hopeful. And it makes sense to be so.
Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382 Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981?s=21 Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/ List of things you can do for SRF: https://Syngap.fund/clicks Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs Learn more at https://SyngapResearchFund.org
10:28
May 22, 2021
SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC
SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC Validated Scales - Congrats to the ORCA Team at Duke https://syngap.fund/orca - Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars Grand parents article https://syngap.fund/grand - Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 - Join the Group there is a link in the article - Peer connection is so key Ciitizen - US sign ups continue!  Every patient matters/. https://www.ciitizen.com/syngap1/ - International is open! Same link, but you must collect and upload. Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available
10:09
May 14, 2021
SynGAP10 - Ep. 9 - 7 May 2021 - Adults, New parents, ABA, Missense and Money
In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10.  As usual, it was packed. Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts.  We are honored.  https://www.rarediseasefilmfestival.com/rarediseasepodcasts Reflections on conversation with parents, especially the parents of Adult SynGAPians. We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars Next week we will have a great webinar with Prof. Haas of UBC about missense mutations.  Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1 Mike answered a great question about cost and access.  Explaining why we are hopeful that payers will support our therapies.
10:12
May 07, 2021
SYNGAP10 - Ep. 8 - BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngap
This episode is an absolute must.  Don't miss it. - Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen.  If you are enrolled in Ciitizen, start doing your seizure tracker today: 🔗 https://Syngap.Fund/ST - If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/ - 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21.  This is a big deal. Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page - #Sprint4Syngap raised $122,500+.  Huge thanks to everyone.  Two great videos of the community building that took place are: Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8 Boston https://youtu.be/edlfSW1kvKE - Welcome to 4 new families just diagnosed in the past week.  🤯 - If you want to support SRF, call us, there is some much good work to do! This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast
10:05
April 30, 2021
#Syngap10 - Episode 7 - 23 April 2021
Syngap.Fund/Sprint We have raised $104k, so far!  Look for the #sprint4syngap tomorrow! Thanks to Henry Anderson of the Pats for a shoutout! The fund will go to an upcoming grant at BCH EEG Biomarker work Analysis of Ciitizen data into a study Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST We had meetings with CB, PMC, ELCC & REN this week. Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs Reach out to us if you want to Volunteer Thanks for listening to SYNGAP10
10:01
April 23, 2021
SYNGAP10 - Ep. 6 - 16 April 2021 - Newsletter, SSB, Ciitizen growth, Frazier, Sprint, ICD-10 & you are not alone.
SRF Newsletter yesterday, make sure you sign up! SSB is off and running. Webinars, another tomorrow in Spanish Sprint next Saturday - April 24th Celebrating Caren is now live and about to go on the circuit thanks Nancy, Daniel & illumina SSB - Seizure sleep and behavio Do the surveys!  Links are in the newsletter and here: syngap.fund/ssb-Behavior syngap.fund/ssb-sleep syngap.fund/ST STXBP1 has joined ciitizen - Now they are joining SYNGAP1, FOXG1 Tess Research (slc13a5), Rett SCN2A via Praxis, SCN8A & BPAN Tom Frazier (Autism Speaks, CSO) has completed Phase 1 of NET, now working on the tool.  He was just on the Today Show 2 weeks ago. - Here we are partnering with Malan, PTEN & ADNP. Sprint4Syngap is going strong: $69k+!  Way to go #TeamMyla! FondoSyngap.org is live, great work Vicky & Marta! We asked for an ICD10 code over a year ago - CDKL5, Dravet, Angleman's all have one, what's going on? You’re not alone, reach out: Mike@SyngapResearchFund.org
10:28
April 17, 2021
SYNGAP10 - Ep. 5 - 9 April 2021 - EEG Biomarkers, SSB Study, Ciitizen, CNF Survey, Sprint4Syngap
Biomarker EEG work - very exciting IPSCs - Prime editing, Base editing, tRNA etc.  Based on Ciitizen data! SSB30 Webinar!  Check it out on April 15th. https://syngap.fund/ssb Seizure, Sleep & Behavior Ciitizen 103 signed up, 8 are VUS, 95 spots used, 5 TO GO.  Sign up now: Ciitizen.com/SYNGAP1 CNF Caregiver survey, due April 23rd.    https://syngap.fund/cnf Kids don't get Dx'd, families do. Grandparent article who wants to talk to Barbara? https://syngap.fund/grand Sprint! Bakers dozen 13 groups over $1k!  62K+ https://syngap.fund/sprint Reminders: Enzo 8, Brazil, was our Warrior this week.  http://syngap.fund/warriors Also two webinars coming up http://syngap.fund/webinar GI on 4/22 and Advocacy on 5/6.
10:07
April 09, 2021
SYNGAP10 - Ep. 4 - 2 April 2021 - Ciitizen Study happening! #SyngapCensus = 762, Caren, Kyle & Sprint4Syngap
SYNGAP10, episode 4, 2 April 2021 starts with incredible news about a forthcoming study. Ciitizen survey pre-trial is signed! Coming soon, look for an email.  If you have not joined, ciitizen.com/SYNGAP1 #SyngapCensus = 762 Caren movie is up - great work on subtitles This week alone - 2 companies, 2 labs, 1 wed warrior Kyle from ohio, 15 - One amazing Webinar #Sprint4Syngap - We are doing well. Newsletter - Board announcement.  Need some volunteers to write the newsletter!
09:60
April 02, 2021
SYNGAP10 - Ep 3 - 29 March 2021 - Webinars, Warriors, Work, Caren subtitles & Sprint4Synga‪p‬
Webinars: Jo, SRFCC1 and so many others are up our beautiful YouTube channel Syngap.Fund/YouTube for the old ones Syngap.Fund/Webinar for the new ones. Warriors: Do you read them?  Is your SynGAPian among them?  SynGAP.Fund/Warriors Work: Do you have time to help?  Know a film maker.  Caren subtitles: we are working on them. Sprint4Syngap: we're upping the goal to $100k, we can do this.
10:44
March 27, 2021
SYNGAP10 - Ep. 2 - 19 March 2021 - Mike updates Syngap Families on the work of SRF‪.‬
Check out the Eat. Sleep. Cure. Mug, love it! #Sprint4Syngap is going well, thanks to leading families and teams. Lots of webinars coming soon, don't miss next week with Jo syngap.fund/teendx Sign up for Ciitizen.com/SYNGAP1 Cell lines and biobanks. E4 sensors to researchers! CNF profiles our support group. Getting the next board together. Praxis earnings call Wahoodatt Fishing is awesome, check them out! https://wahoodatfishing.com/ SRF joins the American Brain Coalition. All in 10 minutes!
09:59
March 20, 2021
SYNGAP10 - Ep. 1 - 12 March 2021 - Mike Graglia updates Syngap Families on the work of SRF‪.‬
Mike's first episode!  A quick update on the week in SYNGAP1, what the SynGAP Research Fund did this week on behalf of families. - Engaged with a new BioPharma company interested in starting a program on SYNGAP1. - Connected ANOTHER company with CIITIZEN.com/SYNGAP1 so that they can use the data we have to do a trial as quickly as possible. - How to sign up for CIITIZEN.com/SYNGAP1 - How #Sprint4Syngap is going - A preview of some work we are doing on drug discovery with Worms and Fish - A preview of work we are planning on EEG Biomarkers - Why biomarkers matter Learn more at www.SyngapResearchFund.org
09:59
March 13, 2021