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SYNGAP10

SYNGAP10

Weekly 10-minute updates on SYNGAP1 with Mike Graglia.

Conference Reg is open! So many leaders in SRF improving the future. #S10e143

📝Full show notes: https://syngap.fund/n143     BIO WAS GREAThttps://www.linkedin.com/posts/nashafitter_bio2024-activity-7204906035000582145-Meyp  GRANTS APPROVED Multiple grants and agreements approved, wait for press releases.  Thank you Aaron & Sarah, Lauren!FUNDRAISING  - Great work to MDBR - Almost $45k, that will be added to $30k! https://charity.pledgeit.org/t/jY577u7uMc Awesome Peter, Heather, Aaron, Justin Albrect & Kali Worth.  Also Dr Jillian McKee!  - Blane & Ashley Dallen in Canada raised almost $15k via a tournament.   NHS UPDATE Colorado should start seeing patients in August!  Don’t cancel CHOP appointments, some people have no choice.   CHATS WITH INDUSTRY Prevalence:  They are easily missed.  The math is clear.  Lots of data.  1% of ID = 35k+ 1/100k at 3.6m in 2023 = 36 a year, minimum with PTV. 5/100k = 180. A YEAR. Caren is 65. 36 x 65 = 2,340 PTVs vs 400 SRF knows about) https://curesyngap1.org/blog/why-are-we-so-sure-that-syngap1-related-intellectual-disability-is-under-diagnosed/   CALENDAR MANAGEMENT Rare Across America is 28 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 170 days away & Registration is live! https://curesyngap1.org/events/conferences/syngap1-conference-2024/ https://secure.givelively.org/event/syngap-research-fund-incorporated/syngap1-conference-2024-hosted-by-syngap-research-fund-srf    CB Blood Donation accelerates Science! STXBP1 conference (Philadelphia, PA, July 19-21, 2024) Myhre Syndrome conference (Philadelphia, PA, July 27-28, 2024) HNRNPH2 conference (Seattle, WA, July 29-30, 2024) PWS/USP7 conference (Atlanta, GA, September 26-27, 2024) COMBINEDBrain conference (Kansas City, MO, September 29th, 2024) SYNGAP1, SLC6A1, Cure GABA-A Variants conference (Los Angeles, CA, December 4-5, 2024)   SHOUTOUTS  - Zoe https://curesyngap1.org/blog/parents-take-action-after-syngap1-related-disorder-diagnosis/  - We need a Pavel award.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,030 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 10,421 Twitter https://twitter.com/cureSYNGAP1  - 3,652 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 397 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 143 of #Syngap10 - June 18, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
June 19, 2024

NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142

Full show notes: https://syngap.fund/n142    BIG NHS UPDATE 66 Kids evaluated, 11 have had follow-ups, ~20 new kids scheduled. Colorado should start seeing patients in August! WHERE TO DONATE MONEY: MDBR is next week, donate now! https://charity.pledgeit.org/t/jY577u7uMc Thanks to the team. https://Syngap.Fund/Unite   BLOOD: June 7 & 8, Loews Coronado Bay Resort, email [email protected] TIME TO JOIN #TEAMSRF  - Volunteer Webinar: https://syngap.fund/LT - Fifty families lent their good names to SRF in this wonderful blog: https://syngap.fund/Community   - https://curesyngap1.org/volunteer-with-srf/    CHATS WITH INDUSTRY  - Is IT delivery a blocker for precision therapies, NO!  - 2026 is feeling like the earliest we see trials.  - BIO with Kathryn next week! CALENDAR MANAGEMENT Rare Across America is 66 days away, register now: https://everylifefoundation.org/rare-advocates/rare-across-america/    Conference is 188 days away: https://curesyngap1.org/events/conferences/syngap1-conference-2024/   PUBLICATION ALERT https://x.com/cureSYNGAP1/status/1795837761678962799    NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,020 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 10,000 Twitter https://twitter.com/cureSYNGAP1  - 3,591 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k Insta https://www.instagram.com/curesyngap1/ - 392 TikTok https://www.tiktok.com/@curesyngap1 Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 142 of #Syngap10 - May 31, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
May 31, 2024

SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141

JOIN SRF LT on Thursday: Volunteer Info session with Leadership Team is this week:  https://syngap.fund/LT Thursday 5/23 at 5:30 Pacific.   MDBR is 3 weeks away! https://Syngap.Fund/Unite   $5k match https://x.com/phalliburton/status/1792288377049415835   It’s all about therapies.  Precision Genetic and Repurposed.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week I was at Milken Global.  All diseases are talking about biomarkers & endpoints. https://milkeninstitute.org/events/global-conference-2024/program  - This week I was at the #Ultragenyx Bootcamp with our CSO https://www.ultragenyx.com/video-this-bootcamp-helps-parents-advance-rare-disease-research/ So good to see Kathryn energized by this role.  - ASGCT was last week and that means announcements…  - Kathryn and I are off to BIO in June in San Diego.   Ionis for Angelman https://www.linkedin.com/posts/cureangelman_exciting-news-for-the-angelman-syndrome-community-activity-7196872264976322563-_rvX  Capsida for STX https://www.linkedin.com/posts/graglia_capsida-biotherapeutics-presents-new-preclinical-activity-7194004214635716608-M01Y  Encoded for STX https://www.linkedin.com/posts/stxbp1-foundation_encoded-therapeutics-provides-pipeline-updates-activity-7196942568859787265-leKO  Nasha at FOXG1 https://www.youtube.com/watch?v=ELKijSx0uwQ   Repurposed therapies are just as important.   Cost effective.  Globally available. They are here now.  We must act, the suffering is immense. They show us what is improvable and therefore inform clinical trial design. They are not compromising other trials.  And to even suggest that is unethical if it suggests people should hold off on helping patients.  How about we just diagnose more kids?  Or think harder about which kids go to which trials? Precision Genetic Therapies are going to be more effective than repurposed drugs, people will happily participate in trials.   Review of repurposed drugs: RAVICTI Rx- 10+ patients with Dr. Grinspan, not all but a few have had significant seizure reduction.  I remain worried about cost and look to STXBP1 and SLC6A1 for guidance here. NORTRIPTYLINE Rx - Has helped me, a handful of families are getting a Rx.  I am hopeful that some researcher does an investigator led trial.  But until then, ask your Neuro. ACETYL-LEUCINE is a Nutraceutical - Update 1 has really been noticed and Update 2 will share a few potential mechanisms of action.  Many are trying this drug from https://bit.ly/tanganil24 Encouraging… no, updating.  Please share data with us if you are trying.  We are collecting case studies for Update 3.  Thank you to the team here.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS - AMPLIFY SRF TO MAKE SURE FAMILIES FIND US  - 1,010 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 9,900 Twitter https://twitter.com/cureSYNGAP1  - 3,560 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 141 of #Syngap10 - May 20, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
May 20, 2024

Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140

Read Jackie’s article on profound autism, be grateful she is an SRF Leader. https://helenjournal.org/april-2024/achieving-equity    Watch Brett’s 2 min talk on his son, he’s on your team too. https://x.com/UFDTech/status/1785111914168594894    Look at all these families that raise a quarter million dollars via #Sprint4Syngap 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ  - $243k, 844 donors  - Kaia’s event was wonderful https://curesyngap1.org/syngap-warriors/kaia/ - Reef’s family also found connection by helping SRF, video coming soon.   Conferences are where we engage professional communities around SYNGAP1 & SRF.  - Last week Vicky was at WODC. https://www.terrapinn.com/conference/world-orphan-drug-congress-usa/ - This week Heather Mestemaker was at the GG DDC. https://globalgenes.org/event/rare-disease-drug-development/  - Next week I’ll be at Milken Global, it takes a team. https://milkeninstitute.org/events/global-conference-2024/program It takes a village.   We need to support efforts to help our kids and accept that the system will always fall short, the need for a strong SRF will only grow.  The more we unify, the faster it grows.   v1 Drugs - Data - Biomarkers & Endpoints v2 now we add Improve Clinical Care (NHS Expansion & Repurposing) - Build a sustainable organization.   NEWLY DIAGNOSED? New families have resources here! https://syngap.fund/Resources SOCIAL MATTERS  - 990 YouTube.  https://www.youtube.com/@CureSYNGAP1   - 3,552 LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 9,852 Twitter https://twitter.com/cureSYNGAP1  - 49k TikTok https://www.instagram.com/curesyngap1/ Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 140 of #Syngap10 - May 2, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
May 2, 2024

SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139

SRF is a “Get-to…” not a “Have-to..”  Do something & Go big.  #S10e139 Talking with John Get vs Have (https://www.youtube.com/watch?v=J5oBo9zcRUE)SRF is the same:- Raise Funds to Change the Future- Volunteer, contribute to a larger effort- Connect with other families- Share our experience to make broader knowledge- Learn from each other and scientists Raise Funds#Sprint4SYNGAP 2024 syngap.fund/sprint24 - https://givebutter.com/ALjJXJ - Newsletter https://mailchi.mp/curesyngap1.org/sprint4syngap?e=8531ca92fd  - $197k, 521 donors - See you Saturday, enjoy it. - It’s a get to, people get to support our incredible efforts. VolunteerACTION IS THE ANTIDOTE TO DESPAIR - Joan Baez - State Reps - May 3rd! - Advocates - Jackie Kancir and Jess Johnson are killing it. - Many other roles  - DEI too. Connect with other Families - Jaxon Movie is up https://curesyngap1.org/resources/movies/ - Sprint events. Volunteer. Etc. - Hope drove across the country  Fundraiser https://givebutter.com/zDUIfN  Reel https://www.facebook.com/reel/421525020629131   Interview https://curesyngap1.org/podcasts/syngap1-stories/ #28 Share our experience to make broader knowledge - FB: www.facebook.com/groups/syngap/  - CHOP is at 99! [email protected]  - Cinci is still recruiting too. Info - https://drive.google.com/file/d/1jLAIe6FTNRGlhPZpouDlYJNPv-d6ICNW/view?usp=drive_link; Survey - https://redcap.research.cchmc.org/surveys/?s=4CYCNJ47RCL7HLN8 Learn from each other & scientists - https://curesyngap1.org/podcasts/cafe-syngap1/  - Coming soon: Missense Server is Awesome, Frogs too. - NAL: https://curesyngap1.org/blog/drug-repurpose-update-1-tanganil-acetyl-leucine-for-potential-management-of-syngap1-related-disorder-symptoms/ - Remember new families have resources too! https://syngap.fund/Resources  I’m learning too!  Just accepted to #LeadersLink of #FasterCures! - Presshttps://milkeninstitute.org/article/leaderslink-cohort-2024-2025-fastercures  - X https://x.com/JMGraglia/status/1782778094589460812  - LinkedIn https://www.linkedin.com/posts/graglia_please-join-us-in-welcoming-the-newest-leaderslink-activity-7188548477889449987-DmAX SOCIAL MATTERS - 979 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  - 3,529 Subscribers on LinkedIn.  https://www.linkedin.com/company/curesyngap1/ - 9,846 Followers on Twitter https://twitter.com/cureSYNGAP1 Podcasts, give all of these a five star review!SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 139 of #Syngap10 - April 23, 2024#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
April 23, 2024

Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138

TOGETHER WE ARE STRONGER  - 1,400 strong, thank you Jess & team. https://curesyngap1.org/blog/syngap1-census-2024-update-61-in-q1-2024-total-1400/  - Stoke webinar: one of the most important considerations for deciding which disease to work on was, “…how strong is the patient advocacy group?”   - Stoke CMO Barry Ticho, MD, PhD, FACC during webinar 4/2/24 to discuss findings of STK-001   WELCOME AND CONNECT  - New parents are coming fast, reach out to them, tell them how much hope to have.  - Connect, connect, connect.   - San Diego next week: https://curesyngap1.org/resources/movies/jaxon/   - Hope https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/ - TU to Emily Barnes who is at FasterCures meeting today in Boston, see #S10e98 to see my thoughts about this workshop https://www.youtube.com/watch?v=iOLjUdVUtqo   TEAM IS GROWING  BOARD - https://www.eurekalert.org/news-releases/1038978  CSO - https://www.eurekalert.org/news-releases/1040061  COO - You?   PRESS  - UK https://www.channel4.com/news/govt-send-funding-boost-still-billions-short-says-tory-mp-with-affected-family/  - GA https://www.gpb.org/news/2024/04/03/80-of-rare-diseases-are-genetic-thats-why-whole-genome-sequencing-can-help/    What does my genetic report mean?  We wrote a blog, but as I’ve had this conversation a few dozen times, my answer is simpler now.  Is it missense or is it truncating?  If missense, do more research, if truncating, it is in the first 4 exons (p. Address of 129 or lower). Who else has it?  Look on ClinVar and call SRF. Blog: https://curesyngap1.org/blog/understanding-your-genetic-report-with-syngap1-a-rare-disease/   STUDIES https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/  CHOP: [email protected]  Adults:  - Press Release: https://www.eurekalert.org/news-releases/1040062  - Study Info:  https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view  QOL: https://Syngap.Fund/QOL24 39 and counting.   #Sprint4Syngap 2024 Total: $168,572 from 347 people Tavilla: $126,385 from 62 Big thanks to them and all teams especially those already over $1k, Phoebe, Kaia, Louie, Kiera, Theo, Hadley & Gracyn. https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ   REPURPOSING  - NAL, blog coming.  - Ravicti, enrolled, and blog on Butyrate coming.  - Nortriptyline, has been game changing, discussing a larger trial.   REFLECTIONS  - Family Medical Leave Act #FMLA https://www.dol.gov/general/topic/benefits-leave/fmla  - Homeschooling… again, avoid the kneejerk.  See #S10e64 https://www.youtube.com/watch?v=01uhSjxGgGE    - Tony update.  Grateful and grieving.   SOCIAL MATTERS 967 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  3,483 Subscribers on LinkedIn.  https://www.linkedin.com/company/18940628/admin/feed/posts/ Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 138 of #Syngap10 - April 4, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
April 4, 2024

#S10e137

Genetic Therapy Companies (ignoring small molecules, see our pipeline here https://curesyngap1.org/syngap1-related-disorder-therapeutic-pipeline/)    Stoke Therapeutics #StokedAboutStoke Presser: https://investor.stoketherapeutics.com/news-releases/news-release-details/stoke-therapeutics-announces-landmark-new-data-support-potential  I did call this in #S10e111 https://youtu.be/i6EZUrqsn2g?si=RN3SLR2vHCjgAiGt&t=706  This study started in #S10e83 https://www.youtube.com/watch?v=7uK2dCs53Ew    Praxis Precision Medicines https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-corporate-update-and-11    Longboard Pharma  https://ir.longboardpharma.com/news-releases/news-release-details/longboard-pharmaceuticals-reports-full-year-2023-financial    Studies https://curesyngap1.org/blog/my-syngap1-drive-a-thon-hope4thecure/  CHOP: [email protected]  Adults: https://drive.google.com/file/d/1tOdodcV7E5ROOHWyLn8a48x1WNBOr-U2/view  QOL: https://Syngap.Fund/QOL24       Fundraisers 247 supporters have us at $79k Team Tavilla is over half of that at $47k Big thanks to them and all teams especially those already over $1k, Phoebe, Kiera, Kaia & Gracyn. Rifton bike for S4S anyone at $500+.  247 Supporters!https://curesyngap1.org/events/featured/sprint4syngap-2024/ https://givebutter.com/ALjJXJ   Social Matters 953 Subscribers on YouTube.  https://www.youtube.com/@CureSYNGAP1  Socials matters so we can find more people, like this: https://curesyngap1.org/blog/an-emotional-journey-begins-after-a-syngap1-diagnosis/    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 137 of #Syngap10 - March 26, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
March 26, 2024

SYNGAP1 Ciitizen Paper is out!  UCB Survey.  UCSF is discovering SYNGAP.  #Sprint4SYNGAP 2024 is on!  Fitter at the WH. #S10e136

Do this study for UCB: https://Syngap.Fund/QOL24    Two killer publications: Boston - https://www.linkedin.com/posts/graglia_syngap-research-fund-announces-308000-multidisciplinary-activity-7173732255369035776-HC-9  Penn/ENDD -  https://www.sciencedirect.com/science/article/abs/pii/S153854422400021X  Email Info at CureSYNGAP1 dot org for PDFs!   Visit to UCSF - Exciting new proposal and wait for the Wilsey paper!   Background: https://www.youtube.com/watch?v=pagFzSmYK8E    Repurposing is moving apace!  More as we have it.  Ravicti. Butyrate. Nortriptyline. Acetylleucine.   Sprint4Syngap is our current fundraiser, get in there and join us! https://curesyngap1.org/events/featured/sprint4syngap-2024/  https://givebutter.com/ALjJXJ  Sprint4Syngap Total: $33,704. Tavilla Total: $6,695   Nasha Fitter at WH, is a masterclass in advocacy. https://www.linkedin.com/posts/nashafitter_this-rare-disease-day-i-was-invited-to-be-activity-7170089524402802688-50tE    Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917   Episode 136 of #Syngap10 - March 16, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1
March 16, 2024
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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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