💯Episode 100! Survey, GI, Biorepository, Press, PG, ASO Training, Sprint3 in 3 weeks!!! #S10e100

How is the podcast doing?

- Episode 1 - 93 in ciitizen, 750 patients, on our first Sprint… https://youtu.be/aGDEc8Uwy-k 

- Episode 100 - 212 in ciitizen, 1,215 patients, on our 3rd Sprint!

 

What you can do this week?

- Take the education survey https://forms.gle/YZJZmJavMNKNEBg88 and consider joining our advocacy group.

- Tell me if you have any GI biopsies planned.

- Plan your travel

- Biorepository Roadshow - See end of shownotes or https://docs.google.com/presentation/d/1Ps3n6f62yQ9lMEsON-vbgvyOKiO8TohawZcUByxVg8g/edit?usp=sharing 

- Annual Conference - Preregister Syngap.Fund/2023conf  

 

Any great press?

- Polancos on TV https://twitter.com/cureSYNGAP1/status/1643967039214850048 

- Fosters in the KC Star https://twitter.com/cureSYNGAP1/status/1643357789966704643 

- Axonis/Tang Grant https://twitter.com/cureSYNGAP1/status/1643602756375298048 

 

Rare News Updates

- ONCE UPON A GENE - EPISODE 181 - Helping Undiagnosed Patients Who Experience Symptoms of Rare Disease Lukas Lange is the CEO and Founder of Probably Genetic. https://twitter.com/OnceUponAGene/status/1644079452211798016 

- Angelman Training for ASOs - https://twitter.com/cureSYNGAP1/status/1643768256468238336

 

#Sprint4Syngap - 21 days, April 29, 2023

- https://www.syngapresearchfund.org/families/sprint4syngap-syngap-research-fund  

- Fundraising page: https://secure.givelively.org/donate/syngap-research-fund-incorporated/sprint4syngap-2023 

 

#MDBRSRF - 63 days - June 10, 2023

syngap.fund/mdbr23

 

#SyngapConf - 236 days - book now, November 30, 2023

- Conf pre-registration link: Syngap.Fund/2023conf 

- We have signed with a hotel/venue, please stay tuned for room link

- Large Latin Contingent too, just another this morning.

 

List of biorepository collection opportunities, watch this webinar for more information https://www.syngapresearchfund.org/webinars/74-combinedbrain-biobank-our-partnership-with-srf-for-syngap1

- 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)

- SLC6A1 Connect, 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 100 of #Syngap10 - April 8, 2023 

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