SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions… #S10e101

SRF Supported Publication on NET, Siblings, Webinars, Frog Video, Clinical Trial Questions…   #S10e101

 

What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368

 

Congrats to Dr. Frazier on the FIRST NET paper:  https://twitter.com/cureSYNGAP1/status/1646573476353044481 

 

Thanks to Kevin for going to Gatlinburg
- Kevin https://twitter.com/cureSYNGAP1/status/1646530060227346433
- ORCA https://twitter.com/cureSYNGAP1/status/1646212570649604097

Thanks to Brain & Life, part of AAN for this article "How Parents Advocate for Their Children with Rare Diseases” https://www.brainandlife.org/articles/after-their-children-were-diagnosed-with 

 

Sibling day
John https://youtu.be/J5oBo9zcRUE 

 LGS https://www.youtube.com/watch?v=kR1nWSEZPfY 

 

Webinars

 McKEE 4/27 https://syngap.fund/mckee  

 SMITH 5/11 https://syngap.fund/smith 

 

Ciitizen SYNGAP1 count is over 2101

- Sign-UP https://ciitizen.com/syngap1 

- Sign-IN & Update https://app.ciitizen.com/

 

Rare News Updates

1. Hot off Presses, Stoke is talking about TANGO and mentions their SYNGAP1 work with Acadia https://knowablemagazine.org/article/health-disease/2023/hope-for-haploinsufficiency-diseases 
2. SCN2A Clinical Trial Site and Video, which is very good!
   - https://www.youtube.com/watch?v=z9SqMSO405I

- https://scn2aclinicaltrials.com/ 

1. Frog update: See what Dr. Helen Willsey is doing here: https://youtu.be/Gp8sROAm5D8 

 

#Sprint4Syngap - 14 days, April 29, 2023

- https://syngap.fund/sprint 

- Fundraising page: https://syngap.fund/sprint23

 

#MDBRSRF - 56 days - June 10, 2023

syngap.fund/mdbr23

 

#SyngapConf - 229 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf
- Book hotels ASAP: https://syngap.fund/2023hotel 

 

Remember the todos in #S10e100 - https://www.youtube.com/watch?v=CCjPkabkR1A 

- Education survey https://forms.gle/YZJZmJavMNKNEBg88
- Biorepository Roadshow - https://syngap.fund/roadshow 

 

List of biorepository collection opportunities, watch this webinar for more information see https://syngap.fund/TJB 

- MED13L Foundation on April 30th, 2023 (Philadelphia, PA)

- DYRK1A Foundation, June 23rd-25th 2023 (Bethesda, MD)

- KDVS Foundation, July 19th-21st 2023 (Orlando, FL)

- STXBP1 Foundation, July 21st-23rd 2023 (Westminster, CO)

- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)

- (Potential) DUP15/Angelman, July 27th-29th 2023 (Nashville, TN)

- (Potential) KAND, August 3rd-6th 2023 (Queens, NY)

- (Potential) Global Genes, Sept 19th-20th 2023 (San Diego, CA)

- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)

- USP7/Prader Willi, Oct 5th-7th 2023 (Denver, CO)

- TBRS Foundation, Oct 12th-14th 2023 (San Antonio, TX)

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

- ADNP Kids Research Foundation, Oct 30th-Nov 1st (Los Angeles, CA)

- (Potential) Angelman Foundation, November 2023 (Orlando, FL)

- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)

 

There is so much work to do, volunteer 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 101 of #Syngap10 - April 15, 2023 

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