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
Ed said:
- Syngap1Stories Episode 26 guest Paulina Polanco – released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories
- Cafe Syngap1 Episode 11 guest Claudio Diaz – released 2/17 Syngap.Fund/Cafe
- Get Ready for Sprint – save the date 4/27/24 – sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 – Syngap.Fund/Sprint24 https://www.rifton.com/ (9 teams signed up as of 2/23 – we had 28 teams in 2023;)
- Orlando Family Day Videos
- Uploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj)
- Added to Paulina’s blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/);
- Videos include Science Day Recap as well as a separate video of Mike’s recap on “Where are we now?”, a summary of how parents can prepare for what’s coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F).
- SYNGAP1 Conference 2024 hosted by SRF – planning committee will start meeting soon; if interested in helping, contact [email protected] #SyngapConf
- SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.
- YouTube Video – https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ
- Addison’s Warrior Story – https://curesyngap1.org/syngap-warriors/addison/
- We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign – if you’re not signed up with Simons yet, sign up now – https://www.simonssearchlight.org/
- Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference – https://x.com/sandysmith317/status/1757669120928047520?s=20
- We’re looking for state representatives and state advocates – fill out this form if you’re interested – https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform
- State Representatives – provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources
- State Advocates – help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)
Upcoming
- Rare Disease Day – join us in DC; two blog posts:
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/id6464522917
Episode 134 of #Syngap10 – Feb 24, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
