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