Connection for Science - #S10e104

Long trip, but first… Last Episode (#S10e103 https://www.youtube.com/watch?v=Tpz-8Uf6qcU) special thanks to Lauren Perry for doing this and for the detailed review. We missed on fabulous family also had an event$243,794 of $250,000, 849 Donors <- https://syngap.fund/sprint23  Phoebe was just diagnosed this year, so it was our first year participating in Sprint4Syngap. We had over 75 family, friends, neighbors, and supporters attend our event in DC.  Stoke - Earnings and steady progress. “This morning we reported Q1 financial results and provided a few business updates. Stoke is on-track to report new data from the ongoing Phase 1/2a clinical studies of STK-001 in children and adolescents with Dravet syndrome in mid-2023. The data readout will focus on safety and seizure frequency results for up to 16 patients who received three doses of 45mg of STK-001 and there are plans to initiate a pivotal study in 2024, pending this additional data.  Also, as we recently shared, Stoke received authorization to initiate a Phase 1/2 study in the UK of STK-002, an investigational new treatment for Autosomal Dominant Optic Atrophy (ADOA).” Deck: https://investor.stoketherapeutics.com/static-files/40ff9e8c-9554-4164-911e-4438676d9001 $ 254.2M as of 3/31/23 (because of Acadia deal)   Webinars - https://syngap.fund/webinar  - McKee is up and a must watch - such tremendous data (Sign up for ciitizen, https://ciitizen.com/syngap1) - Smith 5/11 - Catatonia in Neurodevelopmental Conditions https://syngap.fund/smith  - Lacoste 5/18 - Involvement of the brain endothelium in neurodevelopmental disorders https://syngap.fund/lacoste  Podcasts - Syngap Stories, interviews, see #7 with Peter Halliburton https://www.syngapresearchfund.org/syngap-stories - OUAG with Janie Reade #184 https://effieparks.com/podcast/episode-184-more-of-everything  #BrainDonationAwarenssDay - https://www.syngapresearchfund.org/post/syngap-research-fund-srf-partners-with-autism-brainnet - https://www.syngapresearchfund.org/webinars/an-introduction-to-autism-brainnet  - https://twitter.com/cureSYNGAP1/status/1655180930644951041  Red-eye! Congrats to Chow Lab for SYNGAP1 Press - https://www.ksl.com/article/50638506/eye-of-the-fly-how-fruit-flies-could-help-find-treatment-for-a-rare-genetic-disease-  Paper Alert! #ASO - Prosser on ASO - https://threadreaderapp.com/thread/1655611277232967681.html  Big trip - Boot Camp - https://twitter.com/JMGraglia/status/1652026502899445760 - CHOP - More in Next Episode (#S10e105) Sydney & Yulia https://twitter.com/JMGraglia/status/1653479046905249820 - RDDS - GG with Yulia - https://twitter.com/GlobalGenes/status/1653415768317370373 - St. Jude with Kevin - https://twitter.com/JMGraglia/status/1654560540541288448 RIP Marie - https://www.facebook.com/mike.graglia/posts/pfbid02iuj7TmQ5P8EedhSBtqtC8wcxrzBp2RyEYPb3nzeLW6jXgmvFFSEpNXSbmChTJBzCl  #MDBRSRF - 32 days - June 10, 2023 syngap.fund/mdbr23 #SyngapConf - 205 days - book now, November 30, 2023 - Conf pre-registration link: Syngap.Fund/2023conf - Book hotels ASAP: https://syngap.fund/2023hotel  Remember the Biorepository Roadshow - https://syngap.fund/roadshow  List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB  - DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD) ....... - SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL) 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 104 of #Syngap10 - May 9, 2023 #biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat