SynGAP10 weekly 10 minute updates on SYNGAP1

SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

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.

 

1. Cost effective.  Globally available.
2. They are here now.  We must act, the suffering is immense.
3. They show us what is improvable and therefore inform clinical trial design.
4. 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?
5. 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/id6464522917

Episode 141 of #Syngap10 - May 20, 2024

#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

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/id6464522917

Episode 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

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

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/id6464522917

Episode 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!  

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 volunteers; if interested in helping, contact stacey@curesyngap1.org #SyngapConf

 

Podcasts, give all of these a five star review!

SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

Episode 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
• NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ 
• 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

 

Ed said:

• Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories
• Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe
• 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/  (9 teams signed up as of 2/23 - we had 28 teams in 2023;)
• Orlando Family Day Videos
  • Uploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj) 
  • Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/); 
  • Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F).
• SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact stacey@curesyngap1.org #SyngapConf
• SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.
  • YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ
  • Addison’s Warrior Story - https://curesyngap1.org/syngap-warriors/addison/
• We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you’re not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/
• Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20
• 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
  • State Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources
  • State Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)

 

Upcoming

• Rare Disease Day - join us in DC; two blog posts:
  • Rare Disease Day 2024 - what is it and how can you help SYNGAP1?
  • You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill
  • #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I

 

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/id6464522917

Episode 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/

ETX101 for SCN1A https://encoded.com/press-releases/encoded-therapeutics-announces-us-ind-clearance-and-australian-cta-approval-for-dravet-syndrome-gene-therapy-candidate-etx101/ 

 

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!

https://Syngap.Fund/Sprint24

 

APARITO ANNOUNCEMENT

LI - https://www.linkedin.com/feed/update/urn:li:share:7157828674245783552/

X - https://x.com/cureSYNGAP1/status/1751969751621046667

FB - https://www.facebook.com/cureSYNGAP1/posts/pfbid07mabzGJhcZZZkm3vUy9EkZutAtTL16y4gytED52Xyzjayp3ew62zEXiDA8aEsuYWl

 

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