SynGAP10 weekly 10 minute updates on SYNGAP1 SYNGAP1 Podcasts by SRF

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.
VolunteerACTION 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

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

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/) 
 
Stoke Therapeutics #StokedAboutStoke
Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential 
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/
https://givebutter.com/ALjJXJ
 
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

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

DC was epic, come next year!
- Board Meeting and Leadership Team.
- Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!  
https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l
- 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
NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ 
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.)
- MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/ 
- S.Carolina3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/ 
- 3rd SYNGAP1 Conference, hosted by SRF in LA
   - Pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre
   - Planning committee needs volu