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Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
Monday Oct 31, 2022
Monday Oct 31, 2022
Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/
Thx Alok: https://twitter.com/aloktayi/status/1587093289156517888
CANNONBALL 2.0 - $156,802
Total: https://www.justgiving.com/fundraising/ufd-cftc-2022
Tweet: https://twitter.com/UFDTech/status/1585640994652889089
Interview with Prosser: www.youtube.com/watch?v=gFLEj_Uq1k8
Interview with Rarebase: https://www.youtube.com/watch?v=HuUjJ7XyXhU
#S10e79 https://www.youtube.com/watch?v=VDTwnaq9qIU
FOUR EVENTS
LA: 11/1: https://epilepsyawarenessday.org/event-info/information/
ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap
BOSTON: 11/13 Call Sandy.
NASHVILLE 12/1 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path
RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377
Another incidence paper! Thanks Maddie Gillentine, PhD:
https://twitter.com/maddieag/status/1586421844566908928
4/100 number: https://twitter.com/maddieag/status/1586422427076022273
ASOs
ASO 101 - 12 minute mark: https://www.syngapresearchfund.org/webinars/targeting-alternative-splicing-of-syngap1-using-antisense-oligonucleotides
Sad news KCNT1
News: https://twitter.com/cureSYNGAP1/status/1585613781467484160
Response: https://twitter.com/KCNT1_Epilepsy/status/1585616246132936705
Trials are afoot: Dravet with Stoke: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-presents-data-phase-12a-monarch-study-stk-001
Angelman: https://www.tandfonline.com/doi/full/10.1080/13543784.2021.1939674
Minor Miracle - Milasen - https://www.wired.co.uk/article/milasen-aso-gene-therapy
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast
Apple podcasts: https://syngap.fund/10a
Episode 80 of Syngap10 - October 31, 2022
#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology
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