SYNGAP1 is complex, we need to partner with our clinicians to improve care & get ready for repurposing. #S10e131

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