28.6K
Downloads
158
Episodes
Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/
Episodes
Tuesday Apr 25, 2023
Tuesday Apr 25, 2023
Webinars
McKEE 4/27 https://syngap.fund/mckee
- Ciitizen SYNGAP1 count is over 212
- Sign-UP https://ciitizen.com/syngap1
- Sign-IN & Update https://app.ciitizen.com/
SMITH 5/11 https://syngap.fund/smith
LACOSTE 5/18 https://syngap.fund/lacoste
#Sprint4Syngap - 4 days, April 29, 2023
- $210k, 652 donors.
- Fundraising page: https://syngap.fund/sprint23
What’s your neuro emergency plan?
https://twitter.com/cureSYNGAP1/status/1646170843503034368
Caregiver Connect from DSF
Video modules are broken down into four important topics: Taking Care of the Caregiver; Caregiver Burnout; Communicating Emotions, Needs & Concerns; and Managing Grief. Each module offers multiple videos that you can watch on demand, as your schedule allows, as well as a coordinating tip sheet. If this resource would be useful to you or your community, you can find it at:
- https://dravetfoundation.org/caregiver-resources/caregiver-connect/
- aka https://syngap.fund/dsfcc
Rare News Updates
- PGx, just do it.
- Killer paper overview on therapy types
#MDBRSRF - 46 days - June 10, 2023
#SyngapConf - 219 days - book now, November 30, 2023
- Conf pre-registration link: Syngap.Fund/2023conf
- Book hotels ASAP: https://syngap.fund/2023hotel
Remember the 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:
Episode 102 of #Syngap10 - April 25, 2023 #DNAday
#biomarkers #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
Comments (0)
To leave or reply to comments, please download free Podbean or
No Comments
To leave or reply to comments,
please download free Podbean App.