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 - [email protected] 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