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SynGAP10 audio with Mike Graglia: Weekly 10 minute #SYNGAP1 updates from #SynGAP Research Fund 501c3
10 minutes | Jun 18, 2021
#SYNGAP10 - Ep. 15 - 18 July 2021 - Splash & #SYNGAPlove in 3 days, DSC & BCH Grants, more ICD attention!
#SPLASH4SYNGAP is on MONDAY. 3 days until June 21st! Take photos with the flyer https://syngap.fund/love = https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Use hashtag #SYNGAPlove & #Splash4SYNGAP DSC & BCH - It’s go time! Let’s raise some funds. Read the blogs Syngap.fund/biomarker = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development Syngap.fund/BCH = https://www.syngapresearchfund.org/post/srf-grant-to-boston-childrens-for-natural-history-biomarker-development ICD-10 EveryLife case study! https://everylifefoundation.org/icd-code-roadmap/#toggle-id-13 Dravet Business Cards. Copying is great! Copy us. ONE YEAR SOONER: Reminder why all this matters https://www.syngapresearchfund.org/post/oneyearsooner ORCA: Via CB we are in. Stay tuned here. SYNGAP1 is one of the validation teams Rett Press Release https://www.prweb.com/releases/rett_syndrome_research_trust_announces_development_o[…]on_ability_of_individuals_with_rett_syndrome/prweb18012275.htm DUKE FDA GRANT https://populationhealth.duke.edu/news/orca-measure-expands-more-neurodevelopmental-diseases GRANDPARENTS group is going strong Tell your parents about https://syngap.fund/grand = https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 Also had the c.333del (6!) and regular wednesday bit.ly/SRFHH at 5 PM Pacific. --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | Jun 12, 2021
#SYNGAP10 - Ep. 14 - 11 June 2021 - Community and #SYNGAPlove
- We are seeing some great photos! https://Syngap.fund/Love which is https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap #SyngapLove COMMUNITY - I don’t want the questions. It’s hard to go out in public, our kids are so damn cute. - Connecting on a gene/geno pheno. https://www.syngapresearchfund.org/post/understanding-your-genetic-report-with-syngap1-a-rare-disease BLOGS - Check out life expectancy blog. https://www.syngapresearchfund.org/post/whats-the-life-expectancy-of-someone-with-syngap1 - SRF Equine Therapy Articles, http://syngap.fund/horse which is https://www.syngapresearchfund.org/post/hippotherapy-equine-therapy-syngap1 UPENN - Thx Dr. Heller for your impressive progress report! - Speaking of UPenn! #MDBR21SRF tomorrow! Thanks Aaron Harding and support the team at Syngap.Fund/GIVE - Coba Press Release https://syngap.fund/coba2 - #Rarecast with Nasha Fitter of Ciitizen. https://syngap.fund/RCNF - Sign up for Ciitizen: Ciitizen.com/SYNGAP1 --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | Jun 4, 2021
SYNGAP10 - Ep. 13 - The things we do for LOVE!
Birthday Fundraiser was a great success! https://syngap.fund/m46 Make sure to watch this video from Brett - https://youtu.be/pp9_hTvr2eM ILOVE SOMEONE WITH SYNGAP1 https://syngap.fund/love aka https://www.syngapresearchfund.org/post/share-your-love-for-someone-with-syngap1-for-splash4syngap Learn more at SyngapResearchFund.org --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | May 28, 2021
SynGAP10 - Ep. 12 - 28 May 2021 - IPSCs, Ciitizens, Sleep Webinar, NET Webinar, Birthday Party on FB!
Subscribe to the podcast! https://syngap.fund/10 = https://www.syngapresearchfund.org/syngap10-podcast We are making IPSCs! https://syngap.fund/ipsc = https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments Join the largest SYNGAP1 study on earth https://syngap.fund/nhs Learn more at https://syngap.fund/rarex Watch our Webinars! https://syngap.fund/webinar = https://www.syngapresearchfund.org/families/resources/webinars - https://syngap.fund/aten Thurs June 10th @ 10 PST - https://syngap.fund/drtf Sat July 17th @ 9 PST - Learn more at https://syngap.fund/FrazierPR - and https://syngap.fund/Frazier My birthday fundraiser, please give, I will match every dollar: https://syngap.fund/m46 --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | May 22, 2021
SYNGAP10 - Ep. 11 - May 21st, 2021 - We must be hopeful. And it makes sense to be so.
Understand where science is today with Erik, https://podcasts.apple.com/us/podcast/rarecast/id954082143?i=1000519319382 Kyle’s tweet: Fundraising raises awareness. https://twitter.com/kyleabryant/status/1394413673016446981?s=21 Effie’s Once Upon a Gene episode: It’s Ok that your not OK https://effieparks.com/podcast/episode-080-megan-devine My birthday fundraiser: https://www.facebook.com/donate/465934367824427/4350219688321412/ List of things you can do for SRF: https://Syngap.fund/clicks Remember especially to tell us about the doctors you have seen via https://Syngap.Fund/docs Learn more at https://SyngapResearchFund.org --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | May 14, 2021
SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC
SYNGAP10 - Ep. 10 - 14 May 2021 - Scales, Grands, Ciitizens, Kayo, iPSC Validated Scales - Congrats to the ORCA Team at Duke https://syngap.fund/orca - Join Dr. Frazier to learn more about the NET www.syngapresearchfund.org/families/resources/webinars Grand parents article https://syngap.fund/grand - Thank you Barbara for this article https://www.syngapresearchfund.org/post/loving-a-grandchild-with-syngap1 - Join the Group there is a link in the article - Peer connection is so key Ciitizen - US sign ups continue! Every patient matters/. https://www.ciitizen.com/syngap1/ - International is open! Same link, but you must collect and upload. Ashley Evans, the co-founder of SRF, gave an interview with Kayo - https://Syngap.fund/Kayo IPSCs - We are in the home stretch of accelerating treatments via making iPSCs available --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | May 7, 2021
SynGAP10 - Ep. 9 - 7 May 2021 - Adults, New parents, ABA, Missense and Money
In this episode, Mike reflected on a conversations with and questions from SYNGAP parents who have responded to previous episodes of SYNGAP10. As usual, it was packed. Thanks to DISORDER for listing SYNGAP10 as one of the best Rare Disease podcasts. We are honored. https://www.rarediseasefilmfestival.com/rarediseasepodcasts Reflections on conversation with parents, especially the parents of Adult SynGAPians. We had a great webinar this week with Lori Unumb about ABA, Autism and Advocacy, you can view it on our webinars page https://www.syngapresearchfund.org/families/resources/webinars Next week we will have a great webinar with Prof. Haas of UBC about missense mutations. Don't miss it. https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas Ciitizen continues to grow, sign up at https://Ciitizen.com/SYNGAP1 Mike answered a great question about cost and access. Explaining why we are hopeful that payers will support our therapies. --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | Apr 30, 2021
SYNGAP10 - Ep. 8 - BREAKING NEWS 🚨re ICD-10 & other goodness around #SSB30 & #sprint4syngap
This episode is an absolute must. Don't miss it. - Reminder that #SSB30 is happening now, the first pharma sponsored study on #ciitizen. If you are enrolled in Ciitizen, start doing your seizure tracker today: 🔗 https://Syngap.Fund/ST - If you have not yet signed up for Ciitizen, there is still time, it's free: https://www.ciitizen.com/syngap1/ - 🚨 Breaking: We have reason to believe that we will get an ICD-10 code in June, effective 10/1/21. This is a big deal. Background link: https://www.syngapresearchfund.org/post/syngap-could-have-an-icd-10-code-f78-a1-as-soon-as-next-year Referenced link from podcast: https://www.cms.gov/medicare/acute-inpatient-pps/fy-2022-ipps-proposed-rule-home-page - #Sprint4Syngap raised $122,500+. Huge thanks to everyone. Two great videos of the community building that took place are: Colombia 🇨🇴 https://youtu.be/4jYGJJnbLf8 Boston https://youtu.be/edlfSW1kvKE - Welcome to 4 new families just diagnosed in the past week. 🤯 - If you want to support SRF, call us, there is some much good work to do! This is a podcast, sign up via your favorite service or watch previous episodes at: https://www.syngapresearchfund.org/syngap10-podcast --- Send in a voice message: https://anchor.fm/syngap10/message
10 minutes | Apr 23, 2021
#Syngap10 - Episode 7 - 23 April 2021
Syngap.Fund/Sprint We have raised $104k, so far! Look for the #sprint4syngap tomorrow! Thanks to Henry Anderson of the Pats for a shoutout! The fund will go to an upcoming grant at BCH EEG Biomarker work Analysis of Ciitizen data into a study Ciitizen either sign up ciitizen.com/SYNGAP1 or join the survey syngap.fund/ST We had meetings with CB, PMC, ELCC & REN this week. Help SRF by going to syngap.fund/clicks and tell us about your syngap.fund/docs Reach out to us if you want to Volunteer Thanks for listening to SYNGAP10 --- Send in a voice message: https://anchor.fm/syngap10/message
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