SynGAP10 weekly 10 minute updates on SYNGAP1
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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
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
Fundraising
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
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
SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics - #S10e121
Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio - #S10e120
“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble - #S10e119
#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118
Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117
Getting ready for Global Genes, Cannonball Scramble Gala & the SYNGAP1 Conference — #S10e116
Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)
Naya, Pods, ILAE, Warriors, Talking to Pharma, Monica H. is doing Cannonball! Another week in Syngap-land — #S10e114
Fondo sets the bar for LatAm Engagement, Samar’s interview, Andrade’s paper, the 2nd Soiree was a hit, grants are rolling in! — #S10e113
Stanford Grant, CSC, UCSF Study, SYNGAP1 Case Report, Conference - #s10e112
So much news, double catch up episode. #S10e111
Adam’s Camp is amazing & so are compression vests #S10e110
FAQs for SRF’s SYNGAP1 Conference 2023 #SYNGAP1 #SRFconference #Orlando #S10e109
Happy Birthday SRF! Five years of making the future better! #FasterCures #UCLA #EEG #S10e108
Inspiring Events, Family Video & Important Studies. *Note the CINEMAS TRIAL for Epidiolex - #S10e107
THREE studies to join, animal models to celebrate, webinars to watch, TWO articles (Memphis & Chicago), blogs en español & pods to listen to, SO MANY EVENTS TO COME TO, also SRF in Mexico!
This is the ENDD of excuses. Sign up for the CHOP ENDD Study - #S10e105
Connection for Science - #S10e104
All About #Sprint4Syngap 2023! #S10e103
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