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SYNGAP10

SYNGAP10

Weekly 10-minute updates on SYNGAP1 with Mike Graglia.

ICD-11, SYNGAP1 Adult Paper & Study, AES, #SyngapConf, Frazier Eye Tracking Study – #S10e125

ICD-11 = LD90.Y #LD90Y https://x.com/cureSYNGAP1/status/1730629792137883800   Adult paper and study https://x.com/AledoNeuro/status/1726206128390848604   AES - Lots of SYNGAP1 incl paper with ciitizen data https://x.com/JillianLMcKee/status/1731420167672942878   RT23 - Science: Repurposing, VUS, Genetic Tx & Biomarkers  - Chow https://x.com/CNSdrughunter/status/1730233903602872424  - VUS https://x.com/CNSdrughunter/status/1730268276989571512  - Genetic Therapies https://x.com/dretico/status/1730298959824875741   FD23 - 60 Families from 16 Countries.  Awesome leadership.   Sign up for Adult Study led by Dr. Andrade, if you loved one is 17 or over please email [email protected]    Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 125 of #Syngap10 - December 6, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
December 6, 2023

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving – #S10e123

Giving Tuesday, #SyngapConf, #FasterCures & Happy Thanksgiving - #S10e123   Giving Tuesday - 11/28/23 - https://Syngap.Fund/GT23 #SyngapConf https://Syngap.Fund/RT23   To help onsite with set up, registration, or anything else, contact Ashley ([email protected]), Kali ([email protected]), Corey ([email protected]) or Ed ([email protected]) or see them in Orlando! FasterCures https://www.harpercollins.com/products/faster-cures-michael-milken?variant=40641765802018   Bravo to Jess Johnson & EAN https://moco360.media/2023/11/17/new-moco-based-organization-brings-advocacy-for-epilepsy-funding-to-congress/    Amazing paper out from USC https://stemcell.keck.usc.edu/autism-linked-gene-syngap1-could-impact-early-stages-of-human-brain-development/    Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 124 of #Syngap10 - November 18, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
November 19, 2023

The more we own our EEGs, the sooner we get a biomarker.  Simple. And remember to get Dinner tickets for the conference! – #S10e123

Three Todos: 1 - Come to the #SRFconf and be sure to buy dinner tickets! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund  2 - DC Families, go to this 11/14 event EAN matters: https://shoutout.wix.com/so/c7OkLF5nz 3 - Sign up for NET Study, email [email protected] check out #S10e122 and the #SRFFrazier Release if you are not up to date. (14 so far, ½ returning) https://www.eurekalert.org/news-releases/1006753   EEGS MATTER To get an EEG Biomarker, you need to collect EEGs.  Not simple. This EEG from Angelman in 2021. (Syndrome defined in 1965, UBE3A in 1997) https://www.sciencedirect.com/science/article/pii/S2667174321000380 Check out this 2023 example for SCN2A (gene 1989, patient 2001) https://www.medrxiv.org/content/10.1101/2023.10.24.23296360v1   SYNGAP1 (gene 1998 Huganir, patient 2009 Michaud) Where’s our paper?   Beacon Biosignals is a company we know: https://beacon.bio/   You are entitled to a copy of your medical records under HIPAA and they have 30 days to get it to you. https://www.hhs.gov/hipaa/for-professionals/faq/right-to-access-and-research/index.html    EEGs (in .edf format) are much bigger than the rest of your medical records (pdf and images).  Check out Tony’s https://drive.google.com/drive/folders/1vUMRMtnvTJJi7WEwcSrDSLArGL3vzFxH?usp=sharing    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 123 of #Syngap10 - November 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
November 3, 2023

Study Invitation – Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort – #S10e122 #SRFFrazier

Study Invitation - Everyone with a laptop can help us make an easy at home validated measure to de risk clinical trials.  Sign up now for this #SRFunded effort - #S10e122 #SRFFrazier  We need endpoints and assessment tools.  We can help make it happen with this study.  Let’s get to 100 participants.     #SRFFrazier Grant 1 https://www.prnewswire.com/news-releases/syngap-research-fund-announces-srffrazier-grant-to-dr-thomas-frazier-of-john-carroll-university-301219503.html    How to join study! https://drive.google.com/file/d/1rbJ1zwX3UVDJzWq2oa8fWKL--Wik4gF-/view?usp=drive_link   Two papers already!! Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndrome https://pubmed.ncbi.nlm.nih.gov/37045800/   Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes https://pubmed.ncbi.nlm.nih.gov/37534867/    Raise funds for SYNGAP1 Research via SRF https://syngap.fund/give https://syngap.fund/gt23 > https://givebutter.com/SwK5Gt   Register for the Dinner & Conference! 29 Days until the Conference - Join us! https://www.syngapresearchfund.org/professionals/syngap1-roundtable-2023-syngap-research-fund    #SyngapConf Conference Agenda! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I  Detailed Agenda is here https://drive.google.com/file/d/1iKD-ZpDICXcaU85oBj0uWVVWuGrLJWJl/view    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 122 of #Syngap10 - November 1, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
November 1, 2023

SYNGAP1 Missense Variants: SRF Awards Turku $100,000 to Investigate Using Structural Bioinformatics – #S10e121

“The grant will fund the computational analysis of SYNGAP1  missense variants and the construction of an online server called SynGAP Missense (SGM) server providing clinicians and others open access to the modeling and bioinformatics results.”   Types of mutations https://youtu.be/xYOK-yzUWSI    SYNGAP1 on Alphafold https://alphafold.ebi.ac.uk/entry/F6SEU4    Dr. Underbake on Disordered/Unstructured Proteins https://youtu.be/Q11q_m_tV88?si=Ix9Gr7RSiCdFCgqH&t=830    Common Missense https://www.syngapresearchfund.org/post/syngap1-frequent-de-novo-missense-variant-alert-study-opportunity-for-p-gly344    Young c.980T>C p.Leu327Pro http://clinvar.com/ SYNGAP1 c.980C>T 2015 UK https://pubmed.ncbi.nlm.nih.gov/26079862/ 2018 SK https://pubmed.ncbi.nlm.nih.gov/29390993/    SRF iPSCs https://www.syngapresearchfund.org/post/another-srf-contribution-to-syngap1-research-patient-derived-cell-lines-to-test-treatments    Dr. Courtney Grant https://www.eurekalert.org/news-releases/957967    Dr. Courtney Webinar https://www.syngapresearchfund.org/webinars/79-quantifying-perturbed-syngap1-function-caused-by-coding-mutations    Dr. Haas Webinar https://www.syngapresearchfund.org/webinars/functional-assessment-of-missense-variants-of-syngap1-kurt-haas    EpiMVP https://epimvp.med.umich.edu/    https://leonandfriends.org/ started this work https://www.syngapresearchfund.org/leon  #S10e73 https://www.youtube.com/watch?v=FJgXP4l0cuk    Register for the Conference! 35 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf   #SyngapConf Conference Agenda Announced! #S10e120 described the agenda… https://www.youtube.com/watch?v=Q9U-Ggz_K2I  Press release  https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf    Give all three of our podcasts 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 121 of #Syngap10 - October 25, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
October 25, 2023

Meetings Matter. Join this community at the #SyngapConf. The Gala was a hit (again). And our report from #PCEM2023. Vicky’s at #Bio – #S10e120

#SyngapConf Conference Agenda Announced! https://www.syngapresearchfund.org/post/uniting-for-progress-the-fifth-annual-syngap1-conference-hosted-by-syngap-research-fund-srf-will-take-place-november-30th-in-orlando-florida-syngapconf    Register for the Conference! 37 Days until the Conference - Sign up by Halloween. https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-hosted-by-syngap-research-fund-srf   Dinner is Separate - Join us! https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2023-caregiver-dinner    Nancy is a gem https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-020-nancy-kessler    Gala was a huge success https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund    #PCEM2023 was fun https://x.com/Science_Hood/status/1716471587275227389   Vicky’s at #BIOPatientSummit23  https://x.com/VickyAArteaga/status/1716506175024361836 https://x.com/VickyAArteaga/status/1716176260244611354   Give us 5 stars everywhere.   https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917    This is a podcast subscribe! https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 Episode 120 of #Syngap10 - October 24, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
October 24, 2023

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble –  #S10e119

“I’m afraid to Hope again…” & Melissa – Reflections on ENDD at CHOP, #UFDCure Cannonball, Scramble -  #S10e119   My trip summary to CHOP. Melissa and her family are remarkable. “Doing this for the next generation.”   Why are we afraid to hope?  Because fear is winning.  Everything comes from Fear or Love.  Focus on the love.  Feed that one. https://www.demellospirituality.com/love-or-fear/ https://www.urbanbalance.com/the-story-of-two-wolves/    #UFDCure Cannonball - October 4-6 $128,075.83 so far at 83.6% https://www.youtube.com/watch?v=ilnPIwVy6oY  https://www.syngapresearchfund.org/cannonballhttps://x.com/UFDTech/status/1711488218636357818?s=20    Scramble - October 7, 2023 Have you read the Syngap Story on Julie yet?    52 Days until the Conference - Sign up by Halloween - We need head counts. Registration & Hotels  Conference and Wild Type Shirts:  Share your time and blood too!Sign up for ciitizen! Sign up for CHOP! Volunteer! Give us 5 stars everywhere.  Like Apple podcasts!   This is a podcast subscribe!Episode 119 of #Syngap10 - October 9, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
October 10, 2023

#SyngapCensus, #UFDCure Cannonball, Scramble, PRAX-222 & ciitizen, and a #mustread — #S10e118

#SyngapCensus https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297 #UFDCure Cannonball - October 4-6 https://www.syngapresearchfund.org/cannonball Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure Pre-party https://x.com/UFDTech/status/1709366677261987862   Scramble - October 7, 2023 Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019 Site https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund   PRAX-222 & ciitizen Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg Pressers 9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html  10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day    #mustread Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining  Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/    Wild Type Campaign https://www.bonfire.com/wild-type-syngap1-1/    Conference - Sign up by Halloween - We need head counts. Registration link: https://Syngap.Fund/Orlando   Hotels: https://Syngap.Fund/2023hotel  Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/  Share your time and blood too!Sign up for ciitizen!Sign up for CHOP! Volunteer! Give us 5 stars everywhere.  Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
October 4, 2023
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SYNGAP10

SYNGAP10 is a 10-minute weekly blog to keep parents and families up-to-date on what the team at SynGAP Research Fund (SRF) is doing to advocate for patients & advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think.

Host

Mike Graglia

Mike Graglia

Mike has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. In the broader Rare Neuro community, Mike serves on the Executive Board of COMBINEDbrain, is a member of the AES Epilepsy Research Benchmarks Stewards Committee and is the Co-Chair of the Innovation and Value Initiative 2022 Methods Summit. Mike comes from a career in public policy, international development and strategy. Previous roles have included establishing a new program at New America, a DC think tank, Budget & Planning at both the Gates Foundation & Emerson Collective, healthcare consulting at BCG, developing a tertiary education program with the World Bank Group, managing a refugee program for the International Catholic Migration Commission in Zimbabwe, and teaching math in Peace Corps Namibia. Graglia has an MBA from Columbia where he was a Bronfman Fellow, an MA from Johns Hopkins School of Advanced International Studies where he was a Soros Fellow, and a BS in mathematics from Gonzaga University, S.J. Graglia lives with his wife Ashley & two sons in Marin, California.

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