So much news, double catch up episode. #S10e111

*Note, we aware part of the video froze; that’s life! 

 

RESEARCH!

- Dr. Helbig gave a killer presentation today… at Stanford.  It was so cool to see SYNGAP1 mentioned. “Deciphering the Epilepsy Phenome – Understanding Longitudinal disease trajectories and outcomes” it showed how much data you can get form EHRs, ciitizen and NHS.  We need them all.  Sign up for Ciitizen!  https://www.ciitizen.com/SYNGAP1/

- SRF Supported work out of Huganir’s Lab is on BioRx! https://www.biorxiv.org/content/10.1101/2023.08.06.552111v1.full.pdf

- Grants due on 9/1, already seeing good stuff. https://www.syngapresearchfund.org/professionals/grants/how-to-apply

 

VOLUNTEER SITE IS UP

- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund

 

WEBINARS ARE A VALUABLE RESOURCE

- https://www.syngapresearchfund.org/families/resources/all-webinars/webinars

- Yesterday, Dr. Underbakk, Previously with Dr. Courtney

 

NPR ARTICLE INCLUDING JACKIE KANCIR - https://wpln.org/post/episodes/the-cost-of-care-for-disabilities-and-chronic-illness

 

SYNGAP STORIES
Ashley Frye is killing it.  Suzanne Jones just did an episode.  The CHOP team listens, so do clinicians.  Call Ashley and share your story.

 

COMPANY UPDATES

- Stoke had great news - https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-reports-second-quarter-financial-results-2

- Praxis also having good results - https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-9

- Have not heard from RegEl or Ionis.

 

EVENTS

- Getting ready for the Soiree - August 26th.

- Cannonball set for October 4-6

- SRF SYNGAP1 CONFERENCE 

    - Register, book etc. https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund

    - Watch #s10e109 https://youtu.be/to8SAwdzCmg

 

BIOMARKERS NEED BIOSAMPLES AND EEGS

- Combined Brain collections are great Dr. TJB met our very own Pavel this weekend!  Plasma, plasma, plasma.

- UCLA Study is moving forward for EEG collection.  Contact Declan via study page.

 

Upcoming times and places to do biosamples, thanks you Corey we are at 18 Syngapians and 21 Siblings.  KEEP GOING

- GLUT1 Deficiency, August 26th, 9am-5pm (Embassy Suites, 13700 Conference Center Drive South, Noblesville, IN 46060)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Home 2 Suites by Hilton, 7145 Liberty Centre Drive, Liberty Township, OH 45069, 513-644-2207)

- KCNQ2 Cure Alliance Conference, Sept 29th-30th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611)

- NARS1 Conference, October 1st, 9am-5pm (13550 Commerce Blvd Rogers, MN 55374)

- Prader-Willi Syndrome/USP7 Foundation, October 5-7 (1672 Lawrence St, Denver, CO 80202)

- TBRS Community, Oct 12th-14th 2023 (Morgan’s Wonderland, 5223 David Edwards Dr, San Antonio, TX 78233)

- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)

- FAM177A1, Oct 29th 2023, 9am-5pm (2737 77th Ave Se Suite 101 Mercer Island, WA 98040)

- ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (8978 International Drive Orlando, FL, 32819)

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CONFERENCE 

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

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

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

 

Volunteer with SRF! Info@SyngapResearchFund.org 

 

This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here 

- https://www.syngapresearchfund.org/syngap10-podcast

Apple podcasts: 

https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818

Episode 111 of #Syngap10 - August 12, 2023

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