A very important questionnaire. Repurposing update & ethics. Grant shaping in progress! #S10e134

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200! Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A  The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it. Repurposing:  Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we’ve realized that we don’t like him”. Very harsh but very real to say” Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38 List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ  Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs  Fycompa® (perampanel) - Need to have a webinar on this. Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone.  Wow. Ethics. Is it ethical to sit back and let our kids suffer? Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen!  Thank you to those working on CZI grant too! Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html Upcoming Rare Disease Day - join us in DC; two blog posts: Rare Disease Day 2024 - what is it and how can you help SYNGAP1? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I Fundraising Getting organized: MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/  2nd annual Golf Tourn in Canada 6/8 CFTC early-mid Sept? Link to past events is here:  https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/  3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/  4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here:  https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it’s ready https://Syngap.Fund/24Pre Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 134 of #Syngap10 - Feb 24, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat