SynGAP10 weekly 10 minute updates on SYNGAP1
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Rare Disease Day 2023 - Hattie Video, Coller & McKee Webinars, Missense SYNGAP1 iPSC, $20k, Apply for a Grant, Sprint4Syngap, Join us. #S10e95
It’s RARE DISEASE DAY! Hattie has a new video!
https://www.syngapresearchfund.org/families/movies
I’m off to DC for NIH Day and RD Advocacy with Everylife Foundation
- https://ncats.nih.gov/news/events/rdd
- https://everylifefoundation.org/rare-advocates/rare-disease-week/
We have a $20k match!
- https://syngap.fund/rdd23
- https://secure.givelively.org/donate/syngap-research-fund-incorporated/srf-rare-disease-day-2023
Deadline for Grants is 3/1
- https://www.syngapresearchfund.org/post/134-apply-for-syngap1-research-grants-by-march-1st-or-september-1st
#Sprint4Syngap
- https://syngap.fund/sprint23
- Main page https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023
- 15 Teams! Eight already raising funds: Team Tavilla, Emma Mae, Reef, Kai, Naya, Hope4Hadley, Teddy & Lizzy. Seven more ready to go.
- Remember, there is an adaptive bike in play!
- New family has an event to go to… COMMUNITY
Amazing Webinars
- Jeff Coller - mRNA - March 16th https://www.syngapresearchfund.org/webinars/68-harnessing-messenger-rna-metabolism-for-the-development-of-precision-gene-therapy-syngap1
- Jillian McKee - April 27th - https://syngap.fund/mckee
Ciitizen SYNGAP1 count is at 209! Sign up or Update your Ciitizen Records
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN https://app.ciitizen.com/
iPSCs & Missense Mutations/Variants
- https://syngap.fund/ipsc
- https://www.syngapresearchfund.org/ips-cell-models
- 30 lines, 3 missense on the list, 1 more in Europe I know about
- I urge you to raise for cell lines if you are a missense. $4k for a line, $7k for an isogenic control, $11k to make sure a mutation has a chance to be studied. 30% risk on the first line.
There is so much work to do, volunteer
- Info@SyngapResearchFund.org
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 95 of #Syngap10 - February 28, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
BONKERS week. #S10e62
Thank Goodness we have a dynamic team! Some personal news. #S10e61
Major Preprint from Quadrato & Coba, Rumbaugh working with Praxis, Keep Fundraising! #S10e60
We raise funds, make mice & they make preprints! It’s working! #S10e59
Praxis Announces SynGAP Program & #Sprint4Syngap is a global success!. #S10e58
We need funding, companies and doctors. #S10e57
Why will companies work on #SYNGAP1? #S10e56
#Sprint4Syngap is just 3 weeks away! #S10e55
LOTS OF NEWS - 1055 Patients, it’s #SyngapCensus Day! #S10e54
Happy Epilepsy Awareness Day! #S10E53
We are starting to find lots of adult patients, what now?
Putting this work in perspective…
Another week in 5th gear, buckle up
Rare Disease Day is Monday! And here at SRF we can feel it all happening…
Happy National Caregiver Day!
It’s all coming together - data, trials, research. Time is now to join in!
You can’t do this alone, don’t try. But do Plan. Lots of planning from SNTs to Brain Donation to Service Dogs.
Old School Syngap10 - Lots of great content in 10 minutes. Fundraising. Blogs. Webinars. Patient stories. Ciitizen.
Special Double Episode: Understanding your particular variant and what to do about it (Hint: #iPSC)
Stoke Therapeutics & Acadia Pharmaceuticals are working on SYNGAP1 #S10e43
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