SynGAP10 weekly 10 minute updates on SYNGAP1 SYNGAP1 Podcasts by SRF

Full show notes: https://syngap.fund/n142 
 
BIG NHS UPDATE
66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled.
Colorado should start seeing patients in August!
WHERE TO DONATE
MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite  
BLOOD: June 7 & 8, Loews Coronado Bay Resort, email CSO@cureSYNGAP1.org TIME TO JOIN #TEAMSRF
 - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community 
 - https://curesyngap1.org/volunteer-with-srf/ 
 
CHATS WITH INDUSTRY
 - Is IT delivery a blocker for precision therapies, NO!
 - 2026 is feeling like the earliest we see trials.
 - BIO with Kathryn next week!
CALENDAR MANAGEMENT
Rare Across America is 66 days away, register now:
https://everylifefoundation.org/rare-advocates/rare-across-america/ 
 
Conference is 188 days away:
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
 
PUBLICATION ALERT
https://x.com/cureSYNGAP1/status/1795837761678962799 
 
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
 - 1,020 YouTube.  https://www.youtube.com/@CureSYNGAP1 
 - 10,000 Twitter https://twitter.com/cureSYNGAP1
 - 3,591 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1
Podcasts, give all of these a five star review!
SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 142 of #Syngap10 - May 31, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

JOIN SRF LT on Thursday:
Volunteer Info session with Leadership Team is this week: 
https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.
 
MDBR is 3 weeks away! https://Syngap.Fund/Unite  
$5k match https://x.com/phalliburton/status/1792288377049415835
 
It’s all about therapies.  Precision Genetic and Repurposed.
 
Conferences are where we engage professional communities around SYNGAP1 & SRF.
 - Last week I was at Milken Global.  All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program
 - This week I was at the #Ultragenyx Bootcamp with our CSO
https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.
 - ASGCT was last week and that means announcements…
 - Kathryn and I are off to BIO in June in San Diego.
 
Ionis for Angelman
https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX 
Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y 
Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO 
Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ
 
Repurposed therapies are just as important.
 
Cost effective.  Globally available.
They are here now.  We must act, the suffering is immense.
They show us what is improvable and therefore inform clinical trial design.
They are not compromising other trials.  And to even suggest that is unethical if it suggests people should hold off on helping patients.  How about we just diagnose more kids?  Or think harder about which kids go to which trials?
Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.
 
Review of repurposed drugs:
RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction.  I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here.
NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx.  I am hopeful that some researcher does an investigator led trial.  But until then, ask your Neuro.
ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action.  Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating.  Please share data with us if you are trying.  We are collecting case studies for Update 3.  Thank you to the team here.
 
NEWLY DIAGNOSED?
New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US
 - 1,010 YouTube.  https://www.youtube.com/@CureSYNGAP1 
 - 9,900 Twitter https://twitter.com/cureSYNGAP1
 - 3,560 LinkedIn.  https://www.linkedin.com/company/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 141 of #Syngap10 - May 20, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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