2024 is off to a GREAT start. Time to get clinical, let’s get all these studies oversubscribed and make sure industry knows we are ready. #S10e130
Episode Description
All week on an article (coming soon), but still time to…
- Meet a couple of new parents, hi Stacey Miller. Conf planning for LA is ON! Stacey will be heading to Stanford. https://curesyngap1.org/events/conferences/syngap1-conference-2024/
- See Corey's trip to NYC. You need countable seizures to participate. Watch his talk at the conf.https://youtu.be/Rwwdifsu1g8
- Talk to STXBP1 about Natural History Studies. This is something we need to think about together. e.g. a consensus protocol could save us a placebo arm.
PubMed count is up to 2 for 2024, now a story from China. https://pubmed.ncbi.nlm.nih.gov/38171555/
Ed's been busy!
Cafe Syngap Episode 8 went live
https://curesyngap1.org/podcasts/cafe-syngap1/
Conference Family Day Recap by Paulina Polanco
https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/
Conference Science Day Presentation Videos are being added to the blog (both English & Spanish versions, though videos are only available in English); soon they’ll all be added to the blog as well as on YouTube
https://curesyngap1.org/blog/syngap1-conference-2023-science-day-a-summary/
https://www.youtube.com/watch?v=dsztjHbsR38&list=PLjpr3a14_ls0mKD_Z6xD0vYHt2JtJ1YBD
Studies - Rochester (need 100 more) https://drive.google.com/file/d/1w35jLJRZC3zCviyCHNHCFeh0dETctzLA/view
CHOP/ENDD (need 50 more)
https://drive.google.com/file/d/1ASUkKQOgjbs9hkJVCJ40N8MbVFH4X9_h/view
Newsletter #36 out Saturday AM Jan 6
https://mailchi.mp/syngapresearchfund.org/2023recap
Resolutions for 2024
https://docs.google.com/document/d/1D-vTe_lH2iyfmu-5DobGx0hT2x7XGwx-WNcW8ElwDBg/edit
Attend a conference or two (pre-register for Los Angeles)
https://curesyngap1.org/events/conferences/syngap1-conference-2024/
Write a blog, make a movie, share your Warrior’s story, be a guest on Stories or Cafe (contact AFrye@curesyngap1.org or Merlina@curesyngap1.org)
Upcoming
- Webinar #86 James Goss (Five Years of Funding Innovative Research for SYNGAP1) link https://Syngap.Fund/Five Jan 18, 12:00 ET, 9:00 PT
- Rare Disease Day - join us in DC; two blog posts:
What is Rare Disease Day & why is it the last day in February?
https://curesyngap1.org/blog/what-is-rare-disease-day-why-is-it-the-last-day-in-february/
You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill
https://curesyngap1.org/blog/you-should-represent-syngap1-during-rare-disease-week-on-capitol-hill/
Sign up for the studies I mentioned in #S10e128
1 - NEW!!! GLOBAL - Every english speaking caregiver on earth: Rochester survey, 15 minutes, online. https://redcap.link/NDDCaregiverSurvey
2 - GLOBAL - Multiple Languages - #SRFunded - Every caregiver of a patient 17 years or older: Andrade Adult Surveys. Ilakkiah.Chandran@uhn.ca
3 - GLOBAL - #SRFunded. Every english speaking caregiver on earth: Tom Frazier, eye tracking study, at home, 20 minutes every 3 months for a year. KHuba@jcu.edu
4 - USA: https://ciitizen.com/syngap1/srf/ as always! This data is critical and being used by multiple partners. Sign up/refresh!
5 - USA, East of the mountains: ENDD@chop.edu free natural history study! #S10e105 https://youtu.be/qy5YrPIlH0I?si=4sl_IaLCA7YA6WpM West of the mountains, we are setting up at Stanford and Colorado. Please get in there ASAP.
6 - Texas: QEEG at Cook Childrens. Email Corey.
All studies are on https://curesyngap1.org/studies/
Give all three of our podcasts 5 stars everywhere.
https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast subscribe!
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
Episode 130 of #Syngap10 - January 12, 2024
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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