November 10, 2022

SYNGAP-A-PALOOZA ‘22, NASHVILLE & a bit more on ASOs #S10e81

14 minutes

ATLANTA: 11/12 https://cbo.io/bidapp/index.php?slug=syngap

Stoke Update on STK-001 Phase 1/2a studies https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-host-webinar-and-conference-call-present

PMC 11/14-15 https://www.personalizedmedicinecoalition.org/events/Events/Personalized_Medicine_and_the_Patient

188+ Medical Records Matter: Sign up for CIITIZEN: https://www.ciitizen.com/syngap1/

SYNGAP1 ANNUAL MEETING aka “SYNGAP-A-PALOOZA”

NASHVILLE 12/1 & 2 https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-charting-our-rare-disease-treatment-path

8-8:30 WELCOME AND BREAKFAST - Lauren

8:30-10:45 SYNGAP1 CAREGIVERS: REALITY, RESILIENCE AND RESOURCES - Becky Sansbury & Nancy Kessler

11:00-12:00 REGISTRIES - Invitae, Simons, Rare-X w/Q&A

12:00-12:30 LUNCH

12:30-1:15 GETTING CLINICAL TRIAL READY - Kathie Bishop, Acadia

1:30-1:55 PRAXIS - Title TBD

1:55-2:40 TAKING ON BEHAVIORS - Jackie Kancir

2:40-3:10 MORE OF EVERYTHING BOOK LAUNCH - JR

3:25-3:50 SRF LATIN AMERICA - FONDO DE INVESTIGATION SYNGAP - Vicky Arteaga

3:50-4:35 SRF YEAR IN REVIEW - Rebecca Kohlhepp, Peter Hallburton, Pavel Gerovich

4:35-5:00 LOOKING TO THE FUTURE - Mike Graglia

6:30-8:30 Community Dinner @ Deacon's New South

JOIN US - 12/1 RECEPTION: https://www.eventbrite.com/e/rare-advocate-reception-tickets-446184007377

JOIN US - 12/2 DINNER:

https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2022-caregiver-dinner

GENETIC THERAPY UPDATES

#S10e80 https://youtu.be/xeo94GViXiw

:-) https://www.nytimes.com/2022/11/09/health/pompe-disease-treatment.html

:-/ http://www.cureffi.org/2022/11/01/asos-hydrocephalus/

“we are working to develop an ASO against PRNP as a therapy for prion disease…

Overall, it’s hard to know whether there exists an association between nusinersen and hydrocephalus; if there is, the effect size is not huge and the frequency appears low. No patients appear to have died from it.

I don’t believe that the tragic results reported for valeriasen should hold us back from bringing a prion disease ASO into trials. But, this is one more reminder that clinical trials are experiments, and the first-in-human dose of a drug is really the starting line and not the finish line.”

SMA: THREE DRUGS! BIG Pipeline. https://www.curesma.org/sma-drug-pipeline/

Angelman Trials: 3 recruiting. https://clinicaltrials.gov/ct2/results?cond=Angelman+Syndrome&term=&cntry=&state=&city=&dist=

Dravet Trails, 7 recruiting, 1 is ASO with Stoke. https://clinicaltrials.gov/ct2/results?cond=Dravet+Syndrome&Search=Apply&recrs=a&age_v=&gndr=&type=&rslt=

CANNONBALL 2.0 - $156,802 Listen to the Radio interview! https://www.syngapresearchfund.org/cannonball

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here https://www.syngapresearchfund.org/syngap10-podcast

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Episode 80 of Syngap10 - November 10, 2022

#Syngap #SYNGAP1 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology

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By Syngap Research Fund, 501(c)(3)

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