CURE SYNGAP1 PODCAST aka SYNGAP10

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

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/   STUDIES OF THE WEEK - BEACON DREEM https://curesyngap1.org/resources/webinars/98-dreem-eeg...

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...

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/...

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://cureSYNGAP1.org/SRFPaper   h...

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 - Everybody who was at AES felt the temperature change. Things are getting r...

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-firs...

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 http...

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...

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:/...

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...

📝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-incorpor...

UFDTech, Eye-tracking, Praxis #DEEpDive, Stoke, Lacoste, Devinsky, #SRFConf, #S10e150 📝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...

📝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-a...

📝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/bl...

📝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-syn...

📝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-resear...

📝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.or...

📝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   Pip...

📝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 Pet...

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 CSO@cureSYNGAP1.org TI...

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 & SR...

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...

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 syng...

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   WELCOM...