SynGAP10 weekly 10 minute updates on SYNGAP1
By Mike Graglia, Syngap Research Fund
Learn more at www.syngapresearchfund.org/
SynGAP10 weekly 10 minute updates on SYNGAP1May 07, 2021
Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140
Read Jackie’s article on profound autism, be grateful she is an SRF Leader.
https://helenjournal.org/april-2024/achieving-equity
Watch Brett’s 2 min talk on his son, he’s on your team too.
https://x.com/UFDTech/status/1785111914168594894
Look at all these families that raise a quarter million dollars via #Sprint4Syngap
2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ
- $243k, 844 donors
- Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef’s family also found connection by helping SRF, video coming soon.
Conferences are where we engage professional communities around SYNGAP1 & SRF.
- Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/
- Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program
It takes a village.
We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow. The more we unify, the faster it grows.
v1 Drugs - Data - Biomarkers & Endpoints
v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS
- 990 YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,552 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1
- 49k TikTok https://www.instagram.com/curesyngap1/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 140 of #Syngap10 - May 2, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139
Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)
SRF is the same:
- Raise Funds to Change the Future
- Volunteer, contribute to a larger effort
- Connect with other families
- Share our experience to make broader knowledge
- Learn from each other and scientists
Raise Funds
#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ
- Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd
- $197k, 521 donors
- See you Saturday, enjoy it.
- It’s a get to, people get to support our incredible efforts.
Volunteer
ACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez
- State Reps - May 3rd!
- Advocates - Jackie Kancir and Jess Johnson are killing it.
- Many other roles
- DEI too.
Connect with other Families
- Jaxon Movie is up https://curesyngap1.org/resources/movies/
- Sprint events. Volunteer. Etc.
- Hope drove across the country
Fundraiser https://givebutter.com/zDUIfN
Reel https://www.facebook.com/reel/421525020629131
Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28
Share our experience to make broader knowledge
- FB: www.facebook.com/groups/syngap/
- CHOP is at 99! endd@chop.edu
- Cinci is still recruiting too.Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8
Learn from each other & scientists
- https://curesyngap1.org/podcasts/cafe-syngap1/
- Coming soon: Missense Server is Awesome, Frogs too.
- NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/
- Remember new families have resources too! https://syngap.fund/Resources
I’m learning too! Just accepted to #LeadersLink of #FasterCures!
- Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures
- X https://x.com/JMGraglia/status/1782778094589460812
- LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX
SOCIAL MATTERS
- 979 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
- 3,529 Subscribers on LinkedIn. https://www.linkedin.com/company/curesyngap1/
- 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 139 of #Syngap10 - April 23, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138
TOGETHER WE ARE STRONGER
- 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/
- Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”
- Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001
WELCOME AND CONNECT
- New parents are coming fast, reach out to them, tell them how much hope to have.
- Connect, connect, connect.
- San Diego next week: https://curesyngap1.org/resources/movies/jaxon/
- Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
- TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo
TEAM IS GROWING
BOARD - https://www.eurekalert.org/news-releases/1038978
CSO - https://www.eurekalert.org/news-releases/1040061
COO - You?
PRESS
- UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/
- GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/
What does my genetic report mean?
We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now. Is it missense or is it truncating? If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower).
Who else has it? Look on ClinVar and call SRF.
Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/
STUDIES
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: ENDD@chop.edu
Adults:
- Press Release: https://www.eurekalert.org/news-releases/1040062
- Study Info: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24 39 and counting.
#Sprint4Syngap 2024
Total: $168,572 from 347 people
Tavilla: $126,385 from 62
Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn.
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
REPURPOSING
- NAL, blog coming.
- Ravicti, enrolled, and blog on Butyrate coming.
- Nortriptyline, has been game changing, discussing a larger trial.
REFLECTIONS
- Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla
- Homeschooling… again, avoid the kneejerk. See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE
- Tony update. Grateful and grieving.
SOCIAL MATTERS
967 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
3,483 Subscribers on LinkedIn. https://www.linkedin.com/company/18940628/admin/feed/posts/
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 138 of #Syngap10 - April 4, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
Stoke, Praxis, Longboard; CHOP & Adult Studies; Hope4theCure; Sprint4Syngap & Social Matters #S10e137
Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)
Stoke Therapeutics #StokedAboutStoke
I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706
This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew
Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11
Longboard Pharma https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial
Studies
https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/
CHOP: ENDD@chop.edu
Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view
QOL: https://Syngap.Fund/QOL24
Fundraisers
247 supporters have us at $79k
Team Tavilla is over half of that at $47k
Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn.
Rifton bike for S4S anyone at $500+. 247 Supporters!https://curesyngap1.org/events/featured/sprint4syngap-2024/
Social Matters
953 Subscribers on YouTube. https://www.youtube.com/@CureSYNGAP1
Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 137 of #Syngap10 - March 26, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
SYNGAP1 Ciitizen Paper is out! UCB Survey. UCSF is discovering SYNGAP. #Sprint4SYNGAP 2024 is on! Fitter at the WH. #S10e136
Do this study for UCB: https://Syngap.Fund/QOL24
Two killer publications:
Boston -
https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9
Penn/ENDD -
https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X
Email Info at CureSYNGAP1 dot org for PDFs!
Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!
Background: https://www.youtube.com/watch?v=pagFzSmYK8E
Repurposing is moving apace! More as we have it. Ravicti. Butyrate. Nortriptyline. Acetylleucine.
Sprint4Syngap is our current fundraiser, get in there and join us!
https://curesyngap1.org/events/featured/sprint4syngap-2024/
https://givebutter.com/ALjJXJ
Sprint4Syngap Total: $33,704. Tavilla Total: $6,695
Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 136 of #Syngap10 - March 16, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
#RareOnTheHill and #SRFboard in DC were epic. It’s going to be a great year. Get some #RareBrewCoffee! #S10e135
DC was epic, come next year!
- Board Meeting and Leadership Team.
- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!
- Last week of Feb, don’t miss it.
#RareBrewCoffee has launched!
https://rarebrewcoffee.com/ use code SRF10
Reflecting on the latest Rick Huganir paper
- This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year.
- We are not a Rasopathy! https://x.com/cureSYNGAP1/status/1763644994685153654?s=20
- We need to have Prof. Huganir do a webinar!
#DEI #SyngapWhileBlack Nice work Petersen family
https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/
State Coordinators and Advocates Sign up
- We’re looking for state representatives and state advocates - fill out this form if you’re interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform
- Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories
We still do warriors, 198 is from Poland!
- https://x.com/cureSYNGAP1/status/1763006900939956252?s=20
- https://curesyngap1.org/syngap-warriors/igor/- Are you are warrior yet? https://curesyngap1.org/syngap-warriors/
Repurposing - Thought for the week
- When you try a new molecule, any new molecule, take notes, videos and pictures. - IF a drug increases cognition, expect frustration, at first.- Make sure you watch episode 134, even if it’s long because I really go deep on repurposing. https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z
Notes, all on Youtube, make sure you subscribe there - 935 today let’s get to 1,000
https://www.youtube.com/@CureSYNGAP1
List of repurposed drugs:
Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs
Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/
Siblings - Order a kit, thank you UCB @UCBUSA
https://curesyngap1.org/sibling-support/
Ed’s notes:
- Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY
- Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children’s Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view
- Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/
Scholarship
- UCB USA Family Epilepsy Scholarship
- Blog - https://Syngap.Fund/UCB24
- Diagnosed with Epilepsy or immediate family member or caregiver
- Seeking higher education
- Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view
Fundraising
- Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24 https://www.rifton.com/ (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year’s record.)
..........
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 135 of #Syngap10 - March 3, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134
#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I
Rochester - Check. I asked in #S10e132 to do this and you stepped up, thank you. We hit 200!
Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A
The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.
Repurposing:
Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say”
Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38
List of repurposed drugs:
Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8
Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws
Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs
Fycompa® (perampanel) - Need to have a webinar on this.
Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone. Wow.
Ethics. Is it ethical to sit back and let our kids suffer?
Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen! Thank you to those working on CZI grant too!
Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html
Upcoming
Rare Disease Day - join us in DC; two blog posts:
Fundraising
Getting organized:
MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/
2nd annual Golf Tourn in Canada 6/8
CFTC early-mid Sept? Link to past events is here: https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/
3rd annual Scramble 10/5 - link to past events is here: https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/
4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here: https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/
3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 134 of #Syngap10 - Feb 24, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
What is this SYNGAP1 illness / disease / syndrome / NDD / DEE / MRD5 / NSID actually called? #S10e133
A. MRD5 - https://www.ncbi.nlm.nih.gov/medgen/382611
B. SYNGAP1 NSID - https://pubmed.ncbi.nlm.nih.gov/21237447/ (Hamdan, 2011)
C. SYNGAP1 NDD - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128754/ (Kilinc, 2011)
D. Confusing https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.37189 (Parker, 2015)
De Novo, Heterozygous, Loss-of-Function Mutations in SYNGAP1 Cause a Syndromic Form of Intellectual Disability
E. SYNGAP1 DEE - https://pubmed.ncbi.nlm.nih.gov/30541864/ (Vlaskamp, 2019)
F. SYNGAP1 Related-ID - ICD-10 & Hopkins
- https://www.pnas.org/doi/abs/10.1073/pnas.2308891120 (Araki 2023)
- https://curesyngap1.org/blog/syngap1-assigned-its-own-icd-10-code-f78-a1-srf/ (ICD-10, 2021)
G. SYNGAP1 Related Disorders - https://www.chop.edu/conditions-diseases/syngap1-related-disorders
H. SYNGAP1 Syndrome - ICD-11
- https://twitter.com/cureSYNGAP1/status/1730629792137883800 (2024)
My vote (today) is that we have a disease that is a DEE called SYNGAP1 Related Disorders (SRD).
These monogenic disorders are anything but monolithic.
Disease vs. Syndrome, read this: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1480257/ (Cavalo, 2003)
A syndrome is a recognizable complex of symptoms and physical findings which indicate a specific condition for which a direct cause is not necessarily understood...Once medical science identifies a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process as a disease, not a syndrome.
NDD vs DEE - We are a DEE
“Neurodevelopmental disorders (NDD) encompass highly prevalent conditions such as autism and epilepsy, with cognitive disabilities alone affecting 1-3% of the global population. Developmental epileptic encephalopathies (DEE) are NDD characterized by epilepsy and delayed development or loss of developmental skills. Although the prevalence of DEEs remains to be determined, studies estimate that single-gene epilepsies occur in around 1 in 2100 births annually.”
https://medicalxpress.com/news/2022-12-neurodevelopmental-epilepsy-disorder-genetic.html
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
Episode 133 of #Syngap10 - Feb 13, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Congratulations to Encoded, Jaguar, Aparito and what will we count? How will we know these therapies are working? #S10e132
TWO Gene therapy INDs approved in the past week!
JAG201 for SHANK3 https://pmsf.org/breaking-news-from-jaguar-gene-therapy/
Mike’s Gene Therapy Cheat Sheet
https://docs.google.com/spreadsheets/d/1jwH5piRH9gOmylz-pCNd_DFnpEHJ6EkFyoaMjidBk6c/edit?usp=sharing
TAKE THE ROCHESTER SURVEY
https://redcap.link/NDDCaregiverSurvey
SPRINT FOR SYNGAP24 is on!
APARITO ANNOUNCEMENT
LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/
X - https://x.com/cureSYNGAP1/status/1751969751621046667
This is the program: https://www.aparito.com/patient-group-programme/
RAVICTI GROUP
https://www.facebook.com/groups/butyrate/
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 132 of #Syngap10 - February 6, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131
Three patient stories… with the same conclusion, we don’t know enough about this disease.
- VNS, very few meds. If that is appealing, look for the VNS parents. www.facebook.com/groups/syngap1vns/
- Little lady on Kepra finally getting a new drug.
- Big man getting really odd care, based on EEG
These kids are so complicated and the system is just not ready. We can help by supporting the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
REPURPOSING
Also, repurposing is coming fast. 4PB is going into kids in the US and doctors in the Netherlands, Poland and Turkey are paying attention. We have a hit from Chow that we are validating. Rarebase validation is coming soon… The question is how and what to measure. The other question is cost, stay tuned here.
Grinspan https://youtu.be/Rwwdifsu1g8?si=jZSIiguKLMJv5nSh Rarebase https://youtu.be/z0BdjDaWiMs?si=eTNo0R7kG321XQ8_
Chow https://youtu.be/TphYC3o2BJQ?si=_W66T0SqzE0AQJWm
I’m heading to PMWC tomorrow, really excited to share about SYNGAP1 with Justin, Yael and Nasha. https://pmwcintl.com/session/gene-and-cell-therapies-in-rare-diseases-track_2024sv
New Things to Know about!
CHANGES STUDY
New study in Edinburgh - “Changes Study” - Sydni Weissgold & Dr. Andrew Stanfield with Patrick Wild Centre, the University of Edinburgh - questionnaires, interview, & EEG on child; ages 2-15 with SYNGAP1 diagnosis or no neurodevelopmental diagnosis (for comparison); test is in Edinburgh, follow-up 1 year later
Changes Study - https://drive.google.com/file/d/1GQDl2qFHy0AH1I_z9Fl98wESdnurJPwO/view
All Studies: https://curesyngap1.org/studies/
UCB USA Family Epilepsy Scholarship - https://Syngap.Fund/UCB24
Application deadline March 15
Same org that is giving away Sibling & Caregiver support kits - https://curesyngap1.org/sibling-support/
New blog about our YouTube channel & what you’ll find there - https://Syngap.Fund/YT24 - 368 videos organized into 25 channels - S10, 5 years of Roundtables (Engl & Span), Events, Caren, hidden gems from long ago
Rare Disease Day
What is Rare Disease Day & why is it the last day in February?
You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill
Fundraising
Get Ready for Sprint - save the date 4/27/24
Getting organized:
MDBR 6/8
2nd annual Golf Tourn in Canada 6/8
3rd annual Scramble 10/5
4th annual SRF Gala honoring Caren Leib 10/18
3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
New webpage - Ways to Give - small ways to encourage our network to give to SRF to fund research: https://Syngap.Fund/Ways
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 131 of #Syngap10 - January 23, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
2024 is off to a GREAT start. Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready. #S10e130
All week on an article (coming soon), but still time to…
Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/
See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8
Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol could save us a placebo arm.
PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/
Ed's been busy!
Cafe Syngap Episode 8 went live
https://curesyngap1.org/podcasts/cafe-syngap1/
Conference Family Day Recap by Paulina Polanco
https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/
Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube
https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD
Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view
CHOP/ENDD (need 50 more)
https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view
Newsletter #36 out Saturday AM Jan 6
https://mailchi.mp/syngapresearchfund.org/2023recap
Resolutions for 2024
https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit
Attend a conference or two (pre-register for Los Angeles)
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact AFrye@curesyngap1.org or Merlina@curesyngap1.org)
Upcoming
Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT
Rare Disease Day - join us in DC; two blog posts:
What is Rare Disease Day & why is it the last day in February?
https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/
You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill
https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/
Sign up for the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 130 of #Syngap10 - January 12, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Happy New Year! Happy 10th Birthday Tony! Congrats #Longboard. Publication update. Good feedback and frustrating stories. #S10e129
I talked about Longboard in #S10e71 (August 2022) https://www.youtube.com/watch?v=iPoOjKBwPfY, and e65 and e67. Here is the data:
Conf was really good, I got feedback from Industry today with a great idea: Theater program for trial recruitment. Not too early to pre-register for LA! https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Publications matter, we have 44 in 2023 which is a record, if we keep growing we should have 1 a week! (But it's never linear.)
https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=pubdate
Guess what the first pub in 2024 is about, CBD!
https://www.linkedin.com/feed/update/urn:li:activity:7148489940832505857
This reminds me of a crazy story I heard this week, I need to share:
Dr. won't add Clobazam
Dr. pulled rec for CHOP with silly argument, Why he was wrong:
QEEG is different
Experts are experts and too few
IRB approved studies gather data in a consistent way and help identify endpoints.
Year in Review - we are moving mountains: https://curesyngap1.org/blog/srf-syngap1-the-year-in-review-2023/
Tony Update, 10 tomorrow.
It's been a rough year
MVSD has failed spectacularly
All the schools are full and the one that wanted to grow, can't.
Sign up for the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/ (edited)
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 129 of #Syngap10 - January 5, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Over the break: Studies to do, Research & Press to read, Funds to raise, Resources to update, Resolve to Volunteer #S10e128
A few studies to make sure you are in over the holidays! One brand new!
NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
Research Matters:
Severe behavior problems in SYNGAP1-related disorder: A summary of 11 consecutive patients in a tertiary care specialty clinic - Free download until 2.1.24 1 with this link! https://authors.elsevier.com/c/1iFXZ5Qt1G-z5i - Webinar with 1st Author Ben Thomas coming in 2024!
43 Papers on Pubmed to date! https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2023-2023&sort=pubdate
Fundraising - Let’s get to $2M!
Give Up Your Cup - https://Syngap.Fund/GUYC23
Hope for Harper is a great success - Thank you Justin and Ashley https://syngap.fund/harper
Reminder on resources:
Resources for Newly Diagnosed Families - https://curesyngap1.org/syngap1-resources-for-newly-diagnosed-families/
Tell your Warrior Story - Deanna@curesyngap1.org
Volunteer - https://curesyngap1.org/volunteer-with-srf/
New Sibling Page - https://curesyngap1.org/syngap-siblings/
Great Press Lately -
More on Organoids… https://news.wisc.edu/stem-cell-technology-developed-at-uw-madison-leads-to-new-understanding-of-autism-risks/
Chicagoland… https://phys.org/news/2023-11-approaches-gene-insufficiency.html
Pods to catch up on!Cafe Syngap1 Episode 7 is live!
The Juggle is Real
Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 128 of #Syngap10 - December 22, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127
Ciitizen continues to evolve, but essential aspects remain: SYNGAP1 as a lead program & a strong team. +Support Harper #JuggleIsReal - #S10e127
12/28/20 - SRF Blog - https://curesyngap1.org/blog/10-reasons-we-chose-ciitizen-for-the-syngap1-digital-natural-history-study-srfdociitizen/
9/7/21 - Invitae Press Release Acquisition - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2021/Invitae-to-Acquire-Ciitizen-to-Strengthen-its-Patient-Consented-Health-Data-Platform-to-Improve-Personal-Outcomes-and-Global-Research/default.aspx
9/20/22 - Praxis uses ciitzen data for FDA submission for SCN2A https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html
10/25/23 - Pre-print of paper on SCN2A EEG Biomarker where ciitizen was involved https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1
12/1/23 - AES Poster - https://x.com/JillianLMcKee/status/1731420167672942878/
12/13/23 - Invitae Press Release Divest - https://ir.invitae.com/news-and-events/press-releases/press-release-details/2023/Inv[…]h-Data-Platform-and-Implements-Further-Cost-Cuts/default.aspx
12/13/23 - Ciitizen Announcement - https://www.ciitizen.com/announcement/
Dream Team
https://www.linkedin.com/in/nashafitter/
https://www.linkedin.com/in/faridvij/
https://www.linkedin.com/in/elli-brimble-82774798/
https://www.linkedin.com/in/deven-mcgraw-6650285/
Hope for Harper is still going, help us meet the $15k match!
The Juggle is Real
Episode 211 of Once Upon A Gene (also seen in episode 41 and 94!) https://effieparks.com/podcast/episode-211-the-juggle-is-real
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 127 of #Syngap10 - December 14, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
A patient dosed, new site, audited financials, conference reviews, EOY giving, two studies to join! - #S10e126
Today a SYNGAP1 patient was dosed with 4PB. Thank you Dr. Grinspan!
Have you seen our new site? Thx Ed, Dan and team! www.cureSYNGAP1.org
Finances, we have two years of audited financials on https://curesyngap1.org/finances/
There are two reviews of the SYNGAP1 Conference and one of AES you need to read
S1 https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/
S1 https://www.draccon.com/dracaena-report/syngap2023
AES https://www.draccon.com/dracaena-report/aes2023
End of year Giving is afoot!
Give up your cup https://givebutter.com/Iuwfzd
Albrecht Match https://givebutter.com/uNxleH aka Syngap.Fund/Harper
General Giving https://curesyngap1.org/donate/
Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca
Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date!
https://www.eurekalert.org/news-releases/1006753
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 126 of #Syngap10 - December 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study - #S10e125
ICD-11 = LD90.Y #LD90Y
https://x.com/cureSYNGAP1/status/1730629792137883800
Adult paper and study
https://x.com/AledoNeuro/status/1726206128390848604
AES - Lots of SYNGAP1 incl paper with ciitizen data
https://x.com/JillianLMcKee/status/1731420167672942878
RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers
- Chow https://x.com/CNSdrughunter/status/1730233903602872424
- VUS https://x.com/CNSdrughunter/status/1730268276989571512
- Genetic Therapies https://x.com/dretico/status/1730298959824875741
FD23 - 60 Families from 16 Countries. Awesome leadership.
Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email Ilakkiah.Chandran@uhn.ca
Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
https://www.eurekalert.org/news-releases/1006753
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123
Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123
Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23
#SyngapConf https://Syngap.Fund/RT23
To help onsite with set up, registration, or anything else, contact Ashley (Afrye@curesyngap1.org), Kali (Kali@curesyngap1.org), Corey (Corey@curesyngap1.org) or Ed (Ed@curesyngap1.org) or see them in Orlando!
FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018
Bravo to Jess Johnson & EAN
Amazing paper out from USC
Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
https://www.eurekalert.org/news-releases/1006753
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
The more we own our EEGs, the sooner we get a biomarker. Simple. And remember to get Dinner tickets for the conference! - #S10e123
Three Todos:
1 - Come to the #SRFconf and be sure to buy dinner tickets!
https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz
3 - Sign up for NET Study, email KHuba@jcu.edu check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning)
https://www.eurekalert.org/news-releases/1006753
EEGS MATTER
To get an EEG Biomarker, you need to collect EEGs. Not simple.
This EEG from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997)
https://www.sciencedirect.com/science/article/pii/S2667174321000380
Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1
SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud)
Where’s our paper?
Beacon Biosignals is a company we know: https://beacon.bio/
You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you.
https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html
EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images). Check out Tony’s
https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials. Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier
We need endpoints and assessment tools. We can help make it happen with this study. Let’s get to 100 participants.
#SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html
How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link
Two papers already!!
Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome
https://pubmed.ncbi.nlm.nih.gov/37045800/
Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes
https://pubmed.ncbi.nlm.nih.gov/37534867/
Raise funds for SYNGAP1 Research via SRF
https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt
Register for the Dinner & Conference!
29 Days until the Conference - Join us!
https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
#SyngapConf Conference Agenda!
#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I
Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 122 of #Syngap10 - November 1, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121
“The grant will fund the computational analysis of SYNGAP1 missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”
Types of mutations
SYNGAP1 on Alphafold
https://alphafold.ebi.ac.uk/entry/F6SEU4
Dr. Underbake on Disordered/Unstructured Proteins
https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830
Common Missense
Young c.980T>C p.Leu327Pro
http://clinvar.com/ SYNGAP1 c.980C>T
2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/
2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/
SRF iPSCs
Dr. Courtney Grant
https://www.eurekalert.org/news-releases/957967
Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations
Dr. Haas Webinar
EpiMVP
https://leonandfriends.org/ started this work
https://www.syngapresearchfund.org/leon
#S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk
Register for the Conference!
35 Days until the Conference - Sign up by Halloween.
#SyngapConf Conference Agenda Announced!
#S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 121 of #Syngap10 - October 25, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio - #S10e120
#SyngapConf Conference Agenda Announced!
Register for the Conference!
37 Days until the Conference - Sign up by Halloween.
Dinner is Separate - Join us!
Nancy is a gem
https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler
Gala was a huge success
https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund
#PCEM2023 was fun
https://x.com/Science_Hood/status/1716471587275227389
Vicky’s at #BIOPatientSummit23
https://x.com/VickyAArteaga/status/1716506175024361836
https://x.com/VickyAArteaga/status/1716176260244611354
Give us 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 120 of #Syngap10 - October 24, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119
My trip summary to CHOP.
Melissa and her family are remarkable. “Doing this for the next generation.”
Why are we afraid to hope? Because fear is winning. Everything comes from Fear or Love. Focus on the love. Feed that one.
https://www.demellospirituality.com/love-or-fear/
https://www.urbanbalance.com/the-story-of-two-wolves/
#UFDCure Cannonball - October 4-6
$128,075.83 so far at 83.6%
https://www.youtube.com/watch?v=ilnPIwVy6oY
https://www.syngapresearchfund.org/cannonballhttps://x.com/UFDTech/status/1711488218636357818?s=20
Scramble - October 7, 2023
Have you read the Syngap Story on Julie yet?
52 Days until the Conference - Sign up by Halloween - We need head counts.
Conference and Wild Type Shirts:
Share your time and blood too!Sign up for ciitizen! Sign up for CHOP! Volunteer!
Give us 5 stars everywhere. Like Apple podcasts!
This is a podcast subscribe!Episode 119 of #Syngap10 - October 9, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118
#SyngapCensus
https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297
#UFDCure Cannonball - October 4-6
https://www.syngapresearchfund.org/cannonball
Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure
Pre-party https://x.com/UFDTech/status/1709366677261987862
Scramble - October 7, 2023
Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019
Site
https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund
PRAX-222 & ciitizen
Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg
Pressers
#mustread
Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining
Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/
Wild Type Campaign
https://www.bonfire.com/wild-type-syngap1-1/
Conference - Sign up by Halloween - We need head counts.
Registration link: https://Syngap.Fund/Orlando
Hotels: https://Syngap.Fund/2023hotel
Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too!Sign up for ciitizen!Sign up for CHOP!
Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117
CALLS TO ACTION
Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this survey
Great papers
Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
https://x.com/cureSYNGAP1/status/1706770818703953955
Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models
https://x.com/cureSYNGAP1/status/1706772916543893597
Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex
https://x.com/cureSYNGAP1/status/1707475941348540894?s=20
We’re at 248 before the BioRxiv
https://x.com/cureSYNGAP1/status/1707516877558501652?s=20
Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Sign up for the next one
10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels
ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland
More Recent Killer Content
Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA
Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5
Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/
Upcoming Amazing Events
Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball
Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories
Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR
10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS)
Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels: https://Syngap.Fund/2023hotel
- Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!
- Volunteer!
- Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 117 of #Syngap10 - September 29, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116
Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s
Events to mention
- Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike
- 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!
- Scramble 10/7 Julie Miles https://syngap.fund/scramble
- Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR
- Gala 10/21 Nancy Kessler https://syngap.fund/CLG3
- Conference 11/30 & 12/1 + Sea World or Disney 12/2
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels: https://Syngap.Fund/2023hotel
- Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!
- Volunteer!
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
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/channel/syngap1-podcasts-by-srf/id6464522917
Episode 116 of #Syngap10 - September 18, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)
Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson
Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/
EURAS Project Press Release https://euras-project.eu/
Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Merch https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF!
- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 115 of #Syngap10 - September 17, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114
Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.
Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83
Pods - Review! Five stars!
- Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
- S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
- Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687
- Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525
CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk
ILAE Dublin was a great success -
- Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023
- Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1
Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Presentations
- Pharma - To follow https://syngap.fund/23
- UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda
Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/
- It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA.
- If you have issues, email Virginie and Mequel.
CANNONBALL 3 is coming! October 4-6. Takeover coming soon.
- Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012
Share your time and blood too!
Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
Donate to the biorepository in OH or IL:
- Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
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/channel/syngap1-podcasts-by-srf/id6464522917
Episode 114 of #Syngap10 - September 10, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113
Super Heroine: Vicky Arteaga
Fondo Syngap is tireless:
- 2 Congreso en Español on September 23, 2023
https://www.syngapresearchfund.org/professionals/2023-en-espanol
Spanish Podcast #CafeSyngap1e01
- YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg
- Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw
- Spotify https://spotify.link/MJZZVMoKGCb
- Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1
#FondoSYNGAP
SRF is at ILAE
- Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6
- Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment
Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani
#SyngapStories #KETO #MAD
- Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20
- Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet
Where have I been all week?
- Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016
Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc
Super Heroine: Sydney Stelmazek
- CHOP Update
- 16 seen so far
- 27 signed up
- QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20
CANNONBALL 3 is coming! October 4-6.
Super Heroine: Dr. Danielle Andrade
Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20
Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate
Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
CONFERENCE
Registration link: https://Syngap.Fund/Orlando
Hotels ASAP: https://Syngap.Fund/2023hotel
Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 113 of #Syngap10 - September 2, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112
Congratulations to Dr. Knowles, read our press release.
Check out the CSC Clinic at Stanford
Don’t miss #S10e111 to learn about Dr. Helbig
https://www.youtube.com/watch?v=i6EZUrqsn2g
In you are coming to or near SF, please go to the Willsey Lab and do the breathing test with your SYNGAPian
Congratulations to Dr. Kadam for the SRF supported Case Study
Publication: https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full
Tweet: https://twitter.com/cureSYNGAP1/status/1692227117126439099
Register for the conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Merch https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF!
- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 112 of #Syngap10 - August 18, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
So much news, double catch up episode. #S10e111
*Note, we are aware part of the video froze; that’s life!
RESEARCH!
- Dr. Helbig gave a killer presentation today… at Stanford. It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS. We need them all. Sign up for Ciitizen! https://www.ciitizen.com/SYNGAP1/
- SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf
- Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply
VOLUNTEER SITE IS UP
- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
WEBINARS ARE A VALUABLE RESOURCE
- https://www.syngapresearchfund.org/families/resources/all-webinars/webinars
- Yesterday, Dr. Underbakk, Previously with Dr. Courtney
NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness
SYNGAP STORIESAshley Frye is killing it. Suzanne Jones just did an episode. The CHOP team listens, so do clinicians. Call Ashley and share your story.
COMPANY UPDATES
- Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2
- Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9
- Have not heard from RegEl or Ionis.
EVENTS
- Getting ready for the Soiree - August 26th.
- Cannonball set for October 4-6
- SRF SYNGAP1 CONFERENCE
- Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
- Watch #s10e109 https://youtu.be/to8SAwdzCmg
BIOMARKERS NEED BIOSAMPLES AND EEGS
- Combined Brain collections are great Dr. TJB met our very own Pavel this weekend! Plasma, plasma, plasma.
- UCLA Study is moving forward for EEG collection. Contact Declan via study page.
Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings. KEEP GOING
- GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207)
- KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)
- NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)
- Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202)
- TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)
- ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819)
—---
CONFERENCE
Registration link: https://Syngap.Fund/Orlando
Hotels ASAP: https://Syngap.Fund/2023hotel
Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 111 of #Syngap10 - August 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Adam’s Camp is amazing & so are compression vests #S10e110
Adam's Camp:
Get on the mailing list! https://adamscamp.org/
Tony’s Slides! https://docs.google.com/presentation/d/1RVJekxVN6Bemx78Boy7FRbUrtHKAVE0bBzRBlIpyEeA/edit?usp=sharing
Compression Clothing https://calmcare.com/
Come to the conference https://www.youtube.com/watch?v=to8SAwdzCmg
—
CONFERENCE
Registration link: https://Syngap.Fund/Orlando
Hotels ASAP: https://Syngap.Fund/2023hotel
Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 110 of #Syngap10 - July 31, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109
Guest Hosts: Ashley Frye & Lauren Perry
THE BASICS
Who: Everyone! Families (including extended), caregivers, scientists, industry reps.
What: SRF’s 2nd Annual SYNGAP1 Conference.
- Registration link: Syngap.Fund/2023ConfReg
Where: Orlando, FLORIDA! Embassy Suites by Hilton Orlando International Drive Convention Center.
- Room block: https://Syngap.Fund/2023hotel
When: Thursday, November 30th and Friday, December 1st, 2023. *Sea World outing is the Saturday following the conference. More to come on that.
Why: Once in a year opportunity to be in the same room with multiple Syngap families from not only around the US but around the world!
T-SHIRTS: https://www.bonfire.com/srf-syngap1-conference-2023/
—
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 109 of #Syngap10 - July 20, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108
Happy 5th Birthday SRF! https://mailchi.mp/syngapresearchfund.org/happy-5th-birthday-srf
FASTERCURES
See #S10e98 https://www.youtube.com/watch?v=iOLjUdVUtqo
https://milkeninstitute.org/centers/fastercures/building-nonprofit-capacity/train
Census https://Syngap.fund/census - 1,238
CHOP
McKee Grant via AES https://twitter.com/jillianlmckee/status/1674037974684647424?s=46&t=8Y3-Ue9XY-QOTy42vH52Fw
What to expect - https://www.syngapresearchfund.org/post/what-to-expect-when-youre-preparing-to-visit-the-syngap1-natural-history-study
Their reflections: http://epilepsygenetics.net/2023/07/11/stxbp1-and-syngap1-natural-history-reflections-after-day-1-of-endd-clinic/
STUDIES
See #S10e107 for four opportunities, https://www.youtube.com/watch?v=boHYLi3S-Mk
But also: UCLA - EEG - West Coast!
Missense, let’s make cell lines… watch this: https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations/
PODCASTS
Brain and Life 1 and 2
https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with
Part 1 - English - https://www.brainandlife.org/podcast/community-stories-navigating-rare-epilepsy-diagnosis
Part 2 - Spanish - https://www.brainandlife.org/podcast/comunidad-sobre-como-afrontar-diagnostico-epilepsia-genetica
Podcasts - Syngap1 Stories - Ashley Evans (11) and Monica Harding (12)
Ashley - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-011
Monica - https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012
CONFERENCE
Pre-registration link: https://Syngap.Fund/2023conf
Hotels ASAP: https://Syngap.Fund/2023hotel
Merch https://www.bonfire.com/srf-syngap1-conference-2023/
All this was in today’s newsletter! https://Syngap.Fund/News33
Ed is doing a great job with these, thank you Ed!
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 108 of #Syngap10 - July 13, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
RECENT EVENTS
Paddle Slap video https://www.youtube.com/watch?v=F9SaHPzd5bU
Paddle Slap blog https://www.syngapresearchfund.org/post/syngap-paddle-slap-is-a-thing
Family Video and Fundraiser:
Shaeffer Video https://www.youtube.com/watch?v=Z_dI059yPeM
Shaeffer Fundraiser https://secure.givelively.org/donate/syngap-research-fund-incorporated/support-srf-for-story-s-19th-birthday
SRF in the World:
SRF in Mexico - Our Voice is Getting Louder blog Syngap.Fund/Voice
SRF in Poland - https://twitter.com/beatasyngap1/status/1664996361585197057?s=20
STUDIES
ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org - https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#
CHOP NHS ENDD Blog: https://Syngap.Fund/CHOPNHS
CORNELL
English https://redcap.link/syngapcaregiversurvey
Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY
COMBINEDBrain Biorepository
STXBP1 Foundation, (July 21st-23rd 2023; 10600 Westminster Blvd, Westminster, CO 80020)
Yellow Brick Road Project, (July 30th-August 2nd (Ponte Vedra Lodge & Club, 607 Ponte Vedra Blvd, Ponte Vedra Beach, FL, 32082)
CINEMAS STUDY - Mild Intellectual Delay
https://cinemasstudy.com/#right_for_me
PRESS
Axios Fruit Flies article https://www.axios.com/local/salt-lake-city/2023/06/09/fruit-fly-medical-research-university-utah
FUTURE EVENTS
June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
August 26 - Syngap Soiree https://e.givesmart.com/events/wiH
October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023
October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/
October 30-31 - Epilepsy Awareness Day at Disneyland https://epilepsyawarenessday.org/lobby-page/
Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SynGAP Research Fund https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
Conference pre-registration link: Syngap.Fund/2023conf
Book hotels ASAP: https://Syngap.Fund/2023hotel
T-shirts https://www.bonfire.com/srf-syngap1-conference-2023/
WEBINARS
Upcoming: June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations
- Previous: Therapeutic Strategies for Autism: Targeting Three Levels of the Central Dogma of Molecular Biology - Presented to the SYNGAP1 Community - Lilia Iakoucheva & Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1
PODCAST
- Syngap Stories, interviews, see #10 with Dani Williams https://www.syngapresearchfund.org/podcast-episodes/episode-010
Volunteer with SRF! Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 107 of #Syngap10 - June 14, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en espanol & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!
Blane & Ashley Dallen & Melissa Oakley in Canada just raised over $10k together with two events.
SynGAP Paddle Slap
Stats: They had 12 teams play in the tournament. About 120 people joined the crawfish boil. Actual $ breakdown: Total Actual Income $23,250.00.
Minnie's article in the Chicago Tribune. (behind firewall) https://www.chicagotribune.com/people/health/ct-hayden-cheng-syngap-diagnosis-0525-20230527-zacxfmtrhbd4bm5gbc3su5hsr4-story.html
Vicky & Paulina in Chihuahua, Mexico at Sociedad Mexicana de Neurología Pediátrica's annual conference https://twitter.com/cureSYNGAP1/status/1659250923611496449
Two blogs en Español
https://www.syngapresearchfund.org/post/vacacionar-con-un-syngap1-147
https://www.syngapresearchfund.org/post/notas-de-terliz-mama-syngap1-145
STUDIES
ENDD S1 NHS - Email ENDD@chop.edu to sign up and please cc mike@curesyngap1.org, lauren@curesyngap1.org & sydney@curesyngap1.org https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view#
Watch #S10e105 https://www.youtube.com/watch?v=qy5YrPIlH0I
Cornell study
English https://redcap.link/syngapcaregiversurvey
Spanish https://redcap.ctsc.weill.cornell.edu/redcap_protocols/surveys/?s=MWTW743PHENPPRPY
COMBINEDBrain Biorepository - https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1
SCIENCE
1st Syngap Patient Derived Models from SRF grant to Dr. Araki & Dr. Huganir https://www.biorxiv.org/content/10.1101/2023.05.25.542312v2
"Eye of the Fly" Chow article - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease
EVENTS
June 10 - MDBR https://charity.pledgeit.org/t/Optdm6sOX9
June 21 - Splash for Syngap https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap
August 26 - Syngap Soiree https://e.givesmart.com/events/wiH
October 7 - Scramble for Syngap https://secure.givelively.org/event/syngap-research-fund-incorporated/scramble-for-syngap-2023
October 21 - SynGAP Research Fund Gala Honoring Caren Leib - https://e.givesmart.com/events/wBy/
CONFERENCE
Nov 30-Dec 1 - SYNGAP1 Conference 2023 hosted by SRF https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund
Conference pre-registration link: https://Syngap.Fund/2023conf
Book hotels ASAP: https://Syngap.Fund/2023hotel
Tshirts: https://www.bonfire.com/srf-syngap1-conference-2023/
WEBINARS
June 8 - Therapeutic strategies for autism: Targeting Three levels of the central dogma of molecular biology - Dr. Lilia Iakoucheva & Mr. Derek Hong https://www.syngapresearchfund.org/webinars/78-therapeutic-strategies-for-autism-targeting[…]tral-dogma-of-molecular-biology-with-a-focus-on-syngap1
June 15 - Quantifying perturbed SYNGAP1 Function Caused by Coding Mutations - Dr. Michael Courtney from Turku in Finland https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations
PODS
- Syngap Stories, interviews, see #8 with Heather Bensch https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-008
- Syngap Stories, interviews, see #9 with Lauren Perry https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-009
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 106 of #Syngap10 - June 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
This is the ENDD of excuses. Sign up for the CHOP ENDD Study - #S10e105
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
Email ENDD@chop.edu to sign up, please cc mike@curesyngap1.org
This is the ENDD of excuses. Sign up for the CHOP ENDD Study.
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 105 of #Syngap10 - May 19, 2023
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Connection for Science - #S10e104
Long trip, but first…
Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors https://syngap.fund/sprint23
Phoebe was just diagnosed this year, so it was our first year participating in Sprint4Syngap. We had over 75 family, friends, neighbors, and supporters attend our event in DC.
Stoke - Earnings and steady progress.
“This morning we reported Q1 financial results and provided a few business updates. Stoke is on-track to report new data from the ongoing Phase 1/2a clinical studies of STK-001 in children and adolescents with Dravet syndrome in mid-2023. The data readout will focus on safety and seizure frequency results for up to 16 patients who received three doses of 45mg of STK-001 and there are plans to initiate a pivotal study in 2024, pending this additional data. Also, as we recently shared, Stoke received authorization to initiate a Phase 1/2 study in the UK of STK-002, an investigational new treatment for Autosomal Dominant Optic Atrophy (ADOA).”
Deck: https://investor.stoketherapeutics.com/static-files/40ff9e8c-9554-4164-911e-4438676d9001
$ 254.2M as of 3/31/23 (because of Acadia deal)
Webinars - https://syngap.fund/webinar
- McKee is up and a must watch - such tremendous data (Sign up for ciitizen, https://ciitizen.com/syngap1)
- Smith 5/11 - Catatonia in Neurodevelopmental Conditions https://syngap.fund/smith
- Lacoste 5/18 - Involvement of the brain endothelium in neurodevelopmental disorders https://syngap.fund/lacoste
Podcasts
- Syngap Stories, interviews, see #7 with Peter Halliburton https://www.syngapresearchfund.org/syngap-stories
- OUAG with Janie Reade #184 https://effieparks.com/podcast/episode-184-more-of-everything
#BrainDonationAwarenssDay
- https://www.syngapresearchfund.org/post/syngap-research-fund-srf-partners-with-autism-brainnet
- https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet
- https://twitter.com/cureSYNGAP1/status/1655180930644951041
Red-eye! Congrats to Chow Lab for SYNGAP1 Press
Paper Alert! #ASO
- Prosser on ASO - https://threadreaderapp.com/thread/1655611277232967681.html
Big trip
- Boot Camp - https://twitter.com/JMGraglia/status/1652026502899445760
- CHOP - More in Next Episode (#S10e105) Sydney & Yulia https://twitter.com/JMGraglia/status/1653479046905249820
- RDDS - GG with Yulia - https://twitter.com/GlobalGenes/status/1653415768317370373
- St. Jude with Kevin - https://twitter.com/JMGraglia/status/1654560540541288448
RIP Marie
#MDBRSRF - 32 days - June 10, 2023
#SyngapConf - 205 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel
Remember the Biorepository Roadshow - https://syngap.fund/roadshow
List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB
- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
.......
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 104 of #Syngap10 - May 9, 2023
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
All About #Sprint4Syngap 2023! #S10e103
Grand Total: $241,359 – Incredible! Congratulations to all the teams.
In-Person Events:
Team Tavilla raised $162,464…and counting
Hope for Hadley raised $10,059… and counting
Team Syngap America Latina raised over $2,000
Canada - Team Mya raised over $2800 & Team Chase raised over $2300
Team Andrew raised over $3,200
Team Emma Mae raised over $3,000
Team Kai raised over $2,600
Team Gracyn raised $1,864
Team Naya raised $1,795
Team Patrick raised $1,240
Kilometers4Kai raised $952
March4McKaela raised $550
Online Fundraisers:
Phoebe’s fight’s total is $32,269
Team Rocco 10,698
Team Fallyn total 1402
Team Saydee total 1123
Sprinting for Laila up in Canada raised $1029
Misko’s family in the Czech Republic is at $850
Team Teddy raised $600
Hope for Reef raised $553
Team Lizzy at $100
Rifton Giveaway
Congrats to Andrew who won the customize Rifton bike!
Sprint4Syngap 2024
Saturday, April 27
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 103 of #Syngap10 - May 3, 2023 #Sprint4Syngap
#fundraising #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
McKee Data Webinar on Thursday! #SPRINT4SYNGAP in 4 days! The Emergency Plan, DSF Caregiver Connect, PGx, Cool Paper, Biorepository Collection! #S10e102 #DNAday
Webinars
McKEE 4/27 https://syngap.fund/mckee - Ciitizen SYNGAP1 count is over 212
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN & Update https://app.ciitizen.com/
SMITH 5/11 https://syngap.fund/smith LACOSTE 5/18 https://syngap.fund/lacoste
#Sprint4Syngap - 4 days, April 29, 2023
- $210k, 652 donors.
- Fundraising page: https://syngap.fund/sprint23
What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368
Caregiver Connect from DSF
Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at: - https://dravetfoundation.org/caregiver-resources/caregiver-connect/
- aka https://syngap.fund/dsfcc
Rare News Updates
PGx, just do it.
Killer paper overview on therapy types
#MDBRSRF - 46 days - June 10, 2023
#SyngapConf - 219 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel
Remember the Biorepository Roadshow - https://syngap.fund/roadshow
List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB
- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)
- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
- (Potential) Angelman Foundation, November 2023 (Orlando, FL)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 102 of #Syngap10 - April 25, 2023 #DNAday
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101
What’s your neuro emergency plan?https://twitter.com/cureSYNGAP1/status/1646170843503034368
Congrats to Dr. Frazier on the FIRST NET paper: https://twitter.com/cureSYNGAP1/status/1646573476353044481
Thanks to Kevin for going to Gatlinburg
- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097
Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases”
https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with
Sibling day
John https://youtu.be/J5oBo9zcRUE
LGS https://www.youtube.com/watch?v=kR1nWSEZPfY
Webinars
McKEE 4/27 https://syngap.fund/mckee
SMITH 5/11 https://syngap.fund/smith
Ciitizen SYNGAP1 count is over 2101
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN & Update https://app.ciitizen.com/
Rare News Updates
1. Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia
https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases
2. SCN2A Clinical Trial Site and Video, which is very good!
https://www.youtube.com/watch?v=z9SqMSO405I
https://scn2aclinicaltrials.com/
3. Frog update: See what Dr. Helen Willsey is doing here:
#Sprint4Syngap - 14 days, April 29, 2023
- Fundraising page: https://syngap.fund/sprint23
#MDBRSRF - 56 days - June 10, 2023
#SyngapConf - 229 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel
Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A
- Education survey https://forms.gle/YZJZmJavMNKNEBg88
- Biorepository Roadshow - https://syngap.fund/roadshow
List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB
- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)
- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
- (Potential) Angelman Foundation, November 2023 (Orlando, FL)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 101 of #Syngap10 - April 15, 2023
#frogs #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
💯Episode 100! Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!! #S10e100
How is the podcast doing?
- Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k
- Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!
What you can do this week?
- Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group.
- Tell me if you have any GI biopsies planned.
- Plan your travel
- Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing
- Annual Conference - Preregister Syngap.Fund/2023conf
Any great press?
- Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048
- Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643
- Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048
Rare News Updates
- ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016
- Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336
#Sprint4Syngap - 21 days, April 29, 2023
- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 63 days - June 10, 2023
#SyngapConf - 236 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1
- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)
- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)
- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)
- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)
- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)
- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)
- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)
- (Potential) Angelman Foundation, November 2023 (Orlando, FL)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
- SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL)
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 100 of #Syngap10 - April 8, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
🌞🐒🐸SYNGAP1 is HOT: Gene Therapies, Monkey, Combined Brain, Biorepository, Frazier, Frogs, 1,251 patients & studies #S10e99
Watch the COMMBINEDbrain / TJB Webinar!
Frogs are cool
https://www.spectrumnews.org/news/profiles/how-helen-willsey-broke-new-ground-frogs-in-hand/ See Figure 2D https://pubmed.ncbi.nlm.nih.gov/33497602/
#SYNGAPcensus is at 1,251
https://www.syngapresearchfund.org/post/142-syngapcensus-2023-update-51-in-q1-2023
SYNGAP is HOT
https://www.youtube.com/watch?v=X4iDyHc4xUA
#Sprint4Syngap - 28 days, April 29, 2023
- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 70 days - June 10, 2023
#SyngapConf - 243 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 99 of #Syngap10 - April 1, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Building the SYNGAP1 SRF House - using the Milken Fastercures Research Partnership Maturity Model - #S10e98
Milken Fastercures RPMM
- So much strong work and thinking here!
https://milkeninstitute.org/centers/fastercures/train/toolkits/RPMM
- Three floors: Start by doing what's necessary; then do what's possible; and suddenly you are doing the impossible. - St. Francis of Assisi
- Cool Tweet: https://twitter.com/LindsayOkamoto/status/1639017493007335425?s=20
Why we need a house?
www.fpwr.org - www.jdrf.org - www.runx1-fpd.org
Press is key! Congrats to Peggy
Amazing Webinars
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
#Sprint4Syngap - 36 days, April 29, 2023
- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
#MDBRSRF - 79 days - June 10, 2023
#SyngapConf - 252 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- We have signed with a hotel/venue, please stay tuned for room link
- Large Latin Contingent too, just another this morning.
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
Episode 98 of #Syngap10 - March 23, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Talking to families with 2 year olds, 3 Webinars not to miss, and Sprint4Syngap, Stoke & Praxis Updates, GG Next 2023 Report - #S10e97
- Amazing time with the Hardings, thank you. www.facebook.com/monica.cruzharding/posts/pfbid02WPzjhp3jSMtetB2vHCvMDtyUzqFD2SdP6Ebi68XF8TZdqhvJoqMywVWASp4x8mVUl
- Hattie and Tony at the pool with the Fosters
- Foster movie link on website: www.syngapresearchfund.org/patient-stories/hattie/
- Foster press - 3/13/23 - KMBC News: www.kmbc.com/article/we-re-so-hopeful-local-girl-fighting-rare-disease/43279999/
- 2/28/23 - Fox4KC fox4kc.com/news/kansas-city-area-family-helping-spread-awareness-after-daughters-rare-disease/
- Throw them in occasionally.
Talking to 2 year olds
- LA, NorCal, DC, NY - www.syngapresearchfund.org/post/140-my-reema-syngap1
- You are fortunate to know.
- Your future will be different and we have written that story, see McKee and Brimble
- twitter.com/JillianLMcKee/status/1600202742269501442
- twitter.com/cureSYNGAP1/status/1636177159059574784
- We chose between Love and Fear, Hope and Despair www.demellospirituality.com/love-or-fear/
- Choose hope, love you kiddo by joining SRF and working with us for a better future.
Amazing Webinars
- From the EU this Thursday: www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- Jeff Coller - mRNA - March 16th www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - syngap.fund/mckee
Ciitizen SYNGAP1 count is at 211! Sign up or Update your Ciitizen Records
- Sign-UP ciitizen.com/syngap1
- Sign-IN app.ciitizen.com/
Stoke and Praxis Updates
- Stoke got permission to up the dose in the US, good news for patients and a sign that the FDA comes around. investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-fda-will-allow-administration
- Praxis had good news on ET and will go to Phase 3, which is good, if you remember what happened with their last drug. investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-announces-topline-results-essential1
- See Next 2023 from Global Genes, industry updates start on page 50 20173539.fs1.hubspotusercontent-na1.net/hubfs/20173539/2023%20NEXT%20Report.pdf
#Sprint4Syngap
- syngap.fund/sprint
- Fundraising page: secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Rare Disease Day 2023 was epic and you should have been there. Sprint and Webinar update. #S10e96
- everylifefoundation.org/rare-advocates/rare-disease-week/
- Join us next year! Be in cool pictures like this
- twitter.com/rareadvocates/status/1631421473842667520
- twitter.com/RareAdvocates/status/1631038634936741890
- Here were our asks:
- everylifefoundation.org/wp-content/uploads/2023/02/ELF-FY24-Appropriations_One-Pager.pdf
- everylifefoundation.org/wp-content/uploads/2023/02/BENEFIT-Act_One-Pager_Feb-2023.pdf
- everylifefoundation.org/wp-content/uploads/2023/02/Rare-Disease-Caucus-One-Pager_2_22_23.pdf
- everylifefoundation.org/wp-content/uploads/2023/03/Ask4.pdf
#Sprint4Syngap
- syngap.fund/sprint
- Fundraising page: secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 18 Teams! Fourteen are already raising funds: Team Tavilla, Phoebe, Rocco, Emma Mae, Teddy, Reef, Gracyn, Andrew, Naya, Hope4Hadley, Kai, Saydee, Lizzy, Allison, Patrick.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY
Amazing Webinars
- From the EU this Thursday: www.syngapresearchfund.org/webinars/73-linking-syngap1-with-human-specific-mechanisms-of-neuronal-development
- Jeff Coller - mRNA - March 16th www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - syngap.fund/mckee
Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP ciitizen.com/syngap1
- Sign-IN app.ciitizen.com/
Listen to #S10e95
There is so much work to do, volunteer Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 96 of #Syngap10 - March 6, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95
Time to fundraise for SYNGAP1 Research! Great info on Webinars, Blog, PRAX-222 & SynGAP Stories… #S10e94
More on ENDD gift at Penn, but first, Finding SYNGAP1 Patients, Hotels & Grief in Florida - #S10e93
-Beacon - EEGs are critical for us. https://beacon.bio/
-Diagnosis: Heather
- Survey: https://syngap.fund/maybe
- Learn about this here: https://www.syngapresearchfund.org/post/probably-genetic-three-month-program-update - #CouldItBeSYNGAP1
- #s10e91 - https://www.youtube.com/watch?v=JBQNGKiYQEE
- OUAG - Testing Poem -
Roses are red, Violets are blue
You gave a diagnosis of #ASD, But that's not really true. https://twitter.com/onceuponagene/status/1623714824332128261
-Rare Disease Swarm - So many genes, moving so fast.
- Tweet: https://twitter.com/JMGraglia/status/1625007454244462595?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
- Updated graphic: https://twitter.com/JMGraglia/status/1625013756714717184?s=20&t=DptFQ_8zFEZSc-FmeG2R7w
- Hotels are cool, start planning for a great weekend in December in Florida now…
- Short Link: https://syngap.fund/2023conf
- Long link https://docs.google.com/forms/d/e/1FAIpQLSfetAr8YH41nbJrJy1uXqJeS37nQD6khjDn-LiFxIWo5oUBjA/viewform
-Grief: https://twitter.com/curesyngap1/status/1623934799009419265
- ENDD Webinar hosted by STXBP1
- Tweet: https://twitter.com/cureSYNGAP1/status/1624860304466415616
- Youtube: https://www.youtube.com/watch?v=uOcMAO4oVSE
- More links in Episode 92 #S10e92 https://www.youtube.com/watch?v=AYMx0SbQ1H8
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://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:
Episode 93 of #Syngap10 - February 12, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
10 Reasons SYNGAP-land is hopeful & exciting today #S10e92
Why we need to keep talking about SYNGAP1 #S10e91
Why we need to keep talking about SYNGAP1 #S10e91
Press is good!
- Short link: https://syngap.fund/nw
- Long link: https://www.newsweek.com/my-son-syngap1-rare-genetic-condition-1776362
Jo Ashline in Invitae:
https://blog.invitae.com/finding-andrews-truth-a-family-s-unexpected-rare-disease-diagnosis-e21e97da6baf
Episode 90 was good, remember to listen, #S10e90 https://www.youtube.com/watch?v=Mp4jHg-GXjE
Ciitizen is over 200! Update your Ciitizen Records
- Sign-IN https://app.ciitizen.com/
- Sign-UP https://ciitizen.com/syngap1
Conference Videos are up from Science Day!
https://www.syngapresearchfund.org/post/2022-syngap1-conference-roundtable
Grant applications due March 1, 2023
https://www.syngapresearchfund.org/professionals/grants/how-to-apply
Priority Areas:
- Biomarkers & Endpoints
- VUS Resolution
- Characterizing SYNGAP1 patients in the literature
- SYNGAP1 Translational Science
Help Research with this brief survey. Tell a friend and share these links - 200 & counting, $50 each.
- Short link: https://syngap.fund/UCSF_survey
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
Episode 91 of #Syngap10 - January 31, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat