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
#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:
Episode 100 of #Syngap10 – April 8, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
