Mike Graglia, Syngap Research Fund

SynGAP10 weekly 10 minute updates on SYNGAP1

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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 and advance research into SYNGAP1. If you do nothing else, listen to or watch this and let us know what you think. There are over 762 diagnosed patients on earth according to SRF's #SyngapCensus, if you are related to one of those patients or are a researcher or clinican interested in SYNGAP1, this podcast is for you. Learn more at https://www.syngapresearchfund.org/

Author

Mike Graglia, Syngap Research Fund

Episodes

We are on the Hill Advocating for a better future – Sprint, DREEM, Travel & NET - #S10e162 25.02.2025 18:18

Tuesday, February 25, 2025 - Week 9 ADVOCACY - Thank you Jessica, Jaime and Vicky for repping SRF at ELF RD Week https://www.linkedin.com/posts/curesyngap1_raredc2025-syngap1-advocacy-activity-7300237949831368705-FIRS SPRINT4SYNGAP - April 26, 2025 Webinar: cureSYNGAP1.org/S4S25 Guide: cureSYNGAP1.org/S4SGuide LEVERAGE ON OUR GRANTS #Finland #Missense: https://www.linkedin.com/posts/graglia_kult...

Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161 12.02.2025 16:04

Impact Report is out! Read the Stanford Knowles article. Sign up for Dreem. - #S10e161 Tuesday, February 11, 2025 - Week 7 IMPACT REPORT IS OUT! Impact Page: https://curesyngap1.org/syngap-research-fund-impact-on-the-road-to-cure-syngap1/ Press Release: https://curesyngap1.org/blog/syngap-research-fund-dba-cure-syngap1-srf-announces-the-release-of-their-syngap1-impact-report-for-2024-pr34/ STUDIE...

Don’t give up on your SYNGAPian at any age, Go Aaron! and advocacy matters - #S10e160 04.02.2025 14:16

Tuesday, February 4, 2025 - Week 6 CONVO - Parent of 18 year old Travel now. Get meds under control fast Don’t do this alone Don’t give up on the adults Find doctors who want to learn and think, not dictate. STUDIES OF THE WEEK - FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ Don’t underestimate this tool, please take part in this stud...

Study Spotlight: Rochester 3 Needs Toddlers, Minovacca's Neuro Focus, & Key Research Updates - #S10e159 28.01.2025 14:18

Tuesday, January 28, 2025 - Week 5 STUDIES OF THE WEEK - ROCHESTER 3 We need 3 more 0-2 Year olds. https://curesyngap1.org/resources/studies/neurodevelopmental-disorders-health-index-study-rochester-phase-3/ NYU - CureSYNGAP1.org/NYU https://curesyngap1.org/resources/studies/accuracy-of-smart-phone-identification-of-seizures-and-non-seizure-events-in-rare-genetic-epilepsies-nyu-langone-health/ Tra...

SRF Roadmap Paper is published. Read and share with family and supporters. - #S10e158 15.01.2025 11:50

Wednesday, January 15, 2025 RESEARCH UPDATE There are 313 papers on or related to SYNGAP1 since 1998, but 54 of those are in 2024! So far 2 for 2025. https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.1998-2025&sort=pubdate&timeline=expanded Census = 1,530! https://cureSYNGAP1.org/Census , China was only 113, but now they are 246! Check out these social posts on our https://cu...

2025 is the year we double down on SYNGAP1. Tune in now. - #S10e157 10.01.2025 12:08

2025 is the year we double down on SYNGAP1. Tune in now. - #S10e157 Friday, January 10, 2025 NEWS Census = 1,530! https://cureSYNGAP1.org/Census https://cureSYNGAP1.org/NL42 All 2024 Science Conference videos (27 total) are now on our website and organized in this blog: https://cureSYNGAP1.org/SC24 Pods, listen to this: https://curesyngap1.org/podcasts/syngap1-stories/zoe-bailey/ AES JW - Everyb...

AES & SYNGAP1 Conf were great for SynGAP. 2 wks left to raise funds in ‘24 - #S10e156 18.12.2024 21:56

Tuesday, December 17, 2024 Cure SYNGAP1 Conference - Resounding success https://curesyngap1.org/events/conferences/syngap1-conference-2024/ Summary: http://www.draccon.com/dracaena-report/2024aes A few comments: https://www.linkedin.com/posts/ richardnovak_clinical -rare-activity-7270806450090786816-m0OV https://www.linkedin.com/posts/ haley-tokars -1b2b38209_i-had-the-privilege-of-attending-my-fi...

Annie - #S10e155 26.11.2024 17:17

Tuesday, November 26, 2024 Annie Passed yesterday #SynGAPAngel https://www.linkedin.com/posts/graglia_the-syngap1-community-is-at-a-loss-as-we-activity-7267225798602874880-W9hw?utm_source=share&utm_medium=member_desktop SRF NEWS Stories just keeps getting better: https://curesyngap1.org/podcasts/syngap1-stories/stacey-miller/ New family video, use YouTube auto translate: Juliana Meza https:...

Cure SYNGAP1 is firing on all cylinders! 4MTx, C2C and the Conference is almost here! #S10e154 16.11.2024 14:39

Friday, November 15, 2024 SRF NEWS Busy week for Mike & Virginie: Citizen Health & Ultragenyx, not Milken. Sign up for Citizen Health https://www.citizen.health/partners/srf Growing our name https://curesyngap1.org/blog/syngap-research-fund-srf-announces-dba-cure-syngap1-a-new-era-in-the-search-for-a-cure/ Financials updated with 2023 https://curesyngap1.org/finances/ Thank you Stefanie De...

Progress in Studies, Trials & Community Milestones; Conference #S10e153 02.11.2024 9:57

STUDIES AND A TRIAL FRAZIER https://curesyngap1.org/resources/studies/tracking-thinking-skills-and-behaviors-in-syngap1-patients/ CHANGES (UK) https://curesyngap1.org/resources/studies/changes-study-adults-an-investigation-into-behaviour-and-physiology-in-syngap1/ PNO https://curesyngap1.org/resources/studies/pregnenolone-treatment-trial-for-individuals-with-autism/ Science: Chow Press - https://c...

The Coast 2 Coast Challenge benefiting the SYNGAP1 #ProMMiS for Clinical Excellence is critical. #S10e152 22.10.2024 29:55

Tuesday, October 22, 2024 First Principles Genetic disease means that gene broken since conception. Novel medicines are possible ways to fix the gene - Genetic Therapies (ASO &/or AAV), this is recent, before now, kids with these diseases were a “go home and love them” situation. These are delivered via spinal tap or directly to the brain in leading medical centers. First though, regulators mu...

Nancy Leib Kessler is exceptional: Fundraising, Sibling, Advocating. Do Frazier and come to #SRFConf, #S10e151 18.10.2024 28:31

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ Census is at 1,497! Syngap. Fund/Census Fundraising Season! Gala is tonight in NJ! Syngap. Fund/CLG4 #NLKrox - UFD Tech, $52,094 - Scramble, $28,000 Current Efforts: - Coast2Coast Challenge $42,691 Syngap. Fund/C2C - Missense Account of the Fund $23,684 https://secure.givelively.org/donate/syngap-research-fund-incorporated/...

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150 24.09.2024 22:50

📝Full show notes: https://curesyngap1.org/podcasts/syngap10/ FRAZIER STUDY https://Syngap. Fund/Eye2 khuba@jcu.edu Praxis DEEp Dive https://x.com/JMGraglia/status/1838548992285896914 SRF Deck https://docs.google.com/presentation/d/1ePB5Ou6bGZ2NWWHIEwkO2dGSRYifyZEJy4KZF2fanq4/edit?usp=sharing We Need A Cure Yesterday blog https://curesyngap1.org/blog/we-need-a-cure-for-syngap1-yesterday/ Chr...

Join Frazier Study, Combined Federal Campaign (33321), Unravel Study, new papers & Chronic Grief #S10e149 10.09.2024 17:27

📝Full show notes: https://syngap.fund/n149 FRAZIER STUDY https://Syngap. Fund/Eye2 khuba@jcu.edu SRD JOINS CFC #33321 https://curesyngap1.org/srf-cfc-syngap1-combined-federal-campaign/ PRESS ABOUT FOF (Friends of the Fund) Praxis https://firstwordpharma.com/story/5891543 Unravel https://curesyngap1.org/blog/unravel-biosciences-and-syngap-research-fund-clinical-research-to-accelerate-new-and-rep...

Back2School, Unravel Bio, Support Gala & Scramble, Prez Search, Fondo & more great news #S10e148 22.08.2024 23:18

📝Full show notes: https://syngap.fund/n148 BACK TO SCHOOL 2024 Push the schools to do better, at every turn. Different than 2023: https://curesyngap1.org/podcasts/syngap1-stories/syngap1-stories-episode-016-mike-graglia STUDY https://Syngap. Fund/UB (Unravel Biosciences)3 forms to fill out, please let us know if you want to participate. PRESIDENT & COO SEARCH https://curesyngap1.org/blog/srf-...

#SRFadvocates, #ColinFarrellFoundation, Adult Advocacy & the Best Science Team Ever #S10e147 12.08.2024 20:39

📝Full show notes: https://syngap.fund/n147 FDA Talk this week! Thank you Beacon! https://syngap.fund/fda24 SRF ADVOCACY - Don’t miss the chance to beef up your advocate muscles, after we get through FDA, the fun has just begun. JK & JJ are amazing. https://curesyngap1.org/team/leadership-team/jackie-kancir/ ADULT ADVOCACY SRF & UBC: https://curesyngap1.org/adults-with-syngap1-c...

Title: Zempleni, #SYNGAPconf, #ProjectACE, #ACENHS, Newsletter, #S10e146 27.07.2024 27:15

📝Full show notes: https://syngap.fund/n146 Off to Adam’s Camp: https://www.youtube.com/watch?v=WBBEZPLRaBQ #S10e110 Newsletter #39 - syngap.fund/NL39 https://mailchi.mp/curesyngap1.org/thefutureisnow-17390566 Cafe Syngap16 https://curesyngap1.org/podcasts/cafe-syngap1/norma-herrara/ Zempleni Grant https://curesyngap1.org/blog/syngap-research-fund-srf-continues-support-for-exosome-research-for-s...

A tale of three grants… Coba Grant, Quadrato Grant & Anderson Paper! #S10e145 12.07.2024 21:51

📝Full show notes: https://syngap.fund/n145 2020 COBA GRANT https://keck.usc.edu/news/ksom-researcher-awarded-130000-from-syngap-research-fund-to-study-rare-genetic-disease/ SYNGAP.FUND/IPSC - https://curesyngap1.org/ips-cell-models/ 2022 QUADRATO GRANT & 2022/3 PAPER MAY 22 PRE-PRINT: https://www.biorxiv.org/content/10.1101/2022.05.10.491244v1.full SRF PR: https://www.eurekalert.org/news-...

1,454! Including Hope. Keto, Heat, Sleep Study, Colorado, California, CIRM & Longboard! #S10e144 03.07.2024 22:52

📝Full show notes: https://syngap.fund/n144 CENSUS = 1,454 https://curesyngap1.org/how-many-people-have-syngap1-census/ STX version! https://www.stxbp1disorders.org/news/stxbp1-census-q1-2024 FUNDRAISING Missense Account of the Fund https://www.linkedin.com/posts/curesyngap1_syngap1-srd-autism-activity-7213973153071472640-uSYE Explainer - https://www.youtube.com/watch?v=C9bGOA2MFHc Pipelin...

Why is SYNGAP1 so under diagnosed? A reminder. #SRFConf Reg is open! So Many Leaders! #S10e143 20.06.2024 19:58

📝Full show notes: https://syngap.fund/n143 BIO WAS GREAT https://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...

NHS in Colorado! Real talk about new therapies. Planning for RAA & the Conf! #S10e142 31.05.2024 15:00

📝Full show notes: https://syngap.fund/n142 📺Full video here: https://youtu.be/5KLkpzBBBSQ 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 C...

SRF LT Webinar, MDBR, Therapies, Learning at Conferences. #S10e141 20.05.2024 23:42

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. -...

Who will fight for our kids when we aren’t there? SRF and your crew. #S10e140 02.05.2024 19:44

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 don...

SRF is a “Get-to…” not a “Have-to..” Do something & Go big. #S10e139 23.04.2024 17:57

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://mailc...

Grateful and grieving. SRF is growing with our community, all 1,400 of us! #S10e138 04.04.2024 24:35

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...