September 29, 2023

Plan on #RDW now, it’s been a banner week for high quality SYNGAP1 info - Cannonball is next week! — #S10e117

11 minutes

CALLS TO ACTION

Plan on Rare on the Hill - Week of February 25th in DC

Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I

Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/

Apply for support https://www.surveymonkey.com/r/CJPHMS9

Take this survey
1. Survey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM

Tweet https://x.com/PedsGCAbby/status/1706446478904811750

Great papers

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

https://x.com/cureSYNGAP1/status/1706770818703953955

Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models

https://x.com/cureSYNGAP1/status/1706772916543893597

Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex

https://x.com/cureSYNGAP1/status/1707475941348540894?s=20

We’re at 248 before the BioRxiv

https://x.com/cureSYNGAP1/status/1707516877558501652?s=20

Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1

https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1

10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels

https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels

ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland

More Recent Killer Content

Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA

Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5

Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/

Upcoming Amazing Events

Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball

Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories

Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR

10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS)

Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund

Conference - Sign up by Halloween - We need head counts.

- Registration link: https://Syngap.Fund/Orlando

- Hotels: https://Syngap.Fund/2023hotel

- Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/

Share your time and blood too!

- Sign up for ciitizen!

- Sign up for CHOP!

- Volunteer!

- Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917

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

Episode 117 of #Syngap10 - September 29, 2023

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

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

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