SynGAP10 weekly 10 minute updates on SYNGAP1 Podcast By Syngap Research Fund 501(c)(3) cover art

SynGAP10 weekly 10 minute updates on SYNGAP1

SynGAP10 weekly 10 minute updates on SYNGAP1

By: Syngap Research Fund 501(c)(3)
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About this listen

 Over 1200 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 10 minute weekly podcast is for them. A quick summary of the latest news in the space. The host is Mike Graglia, co-founder & managing director of the SynGAP Research Fund. SRF is a parent-led, all volunteer public charity in the US that strives to accelerate research into treatments for SYNGAP1 so that we can help our loved ones in a timeframe that matters. Learn more at https://www.syngapresearchfund.org/Copyright 2021-3. Syngap Research Fund. All rights reserved. Biological Sciences Economics Hygiene & Healthy Living Management Management & Leadership Physical Illness & Disease Science
Episodes
  • TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25

    TOMORROW 6/21 IS SYNGAP1 AWARENESS DAY #ILOVESOMEONEWITHSYNGAP1 #S10e173 Friday June 20, 2025. Week 25
    Jun 20 2025
    It’s been a month, in that time we’ve had a few important webinars, published lots of wonderful content & attended BIO in Boston this week. Thank you Virginie for going to BIO https://www.linkedin.com/posts/virginie-mcnamar_bio2025-theworldcantwait-raredisease-activity-7341849619028430848-I_FD Ambry was awesome https://www.linkedin.com/posts/graglia_syngap1-ambryknowsgenes-activity-7336183874890231809-Beua CURE SYNGAP1 CONNECT https://curesyngap1.org/curesyngap1connect/ CAMP4 Update - Hear it from them, in our US or EU Webinar. US https://curesyngap1.org/resources/webinars/106-srf-us-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ EU https://curesyngap1.org/resources/webinars/107-srf-eu-know-about-asos-before-syngap1-clinical-trials-camp4-case-study/ Amlexanox and Cool Science Amlexanox (Repurposed Readthrough Drug) https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ Cool Science https://curesyngap1.org/resources/webinars/webinar-109-linking-syngap1-and-human-specific-genes-srgap2b-c-that-control-the-tempo-of-synaptic-development/ Inaugural New Family Webinar Saturday June 28th, 2025, 9 AM Pacific https://curesyngap1.org/resources/webinars/syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ Tuesday Sept. 9th, 2025, 5 PM Pacific also already scheduled! https://curesyngap1.org/resources/webinars/webinar-105-syngap-research-fund-quarterly-webinar-new-syngap1-family-orientation/ STUDIES - MATTER ORTAS (need many, 27 signed up, 8 completed.) https://curesyngap1.org/resources/studies/ortas-observer-reported-toileting-abilities-survey/ BEACON (need 7) https://curesyngap1.org/resources/webinars/98-dreem-eeg-headband-to-assess-sleep-eeg-biomarkers-in-syngap1/ “Dear Families, This is a brief update on the Communication abilities in Children with Genetic Conditions study. The Communication abilities in Children with Genetic Conditions study collected parent-reported data on communication ability from 113 families and direct speech and language data from 33 children. Data collection has now closed and research reports are in preparation for the three most successfully recruited conditions; KBG syndrome, SYNGAP1-related disorder, and differences in MED13L. While the study was initially open to a wider group of single-gene conditions, it was only possible to recruit full data sets and large enough samples to produce high quality research reports for these three conditions. While not all of the data collected from families will be included in the research publications, all of the data provided by families has been extremely valuable to the study. Where permission has been given, anonymised data will serve as valuable pilot data to support future funding applications for research on relevant gene conditions. We thank all families for their valued time and participation in the project. Further updates will share our research reports as they become available. With best wishes, Harriet and the Communication abilities in Children with Genetic Conditions study team.” PRESS JJ in MD https://www.linkedin.com/posts/curesyngap1_syngap1-curesyngap1-activity-7331703029949267969-7AeK/ Stories #34 with Jo Ashline https://curesyngap1.org/podcasts/syngap1-stories/ Warriors Santiago, Axel and Issac! https://curesyngap1.org/syngap-warriors/ Cafe SYNGAP1 with Dina from NY https://curesyngap1.org/podcasts/cafe-syngap1/dina/ NL45 https://mailchi.mp/curesyngap1.org/make-a-splash-for-syngap1-awareness-45 FUNDRAISING Sprint Blog is Epic https://curesyngap1.org/blog/sprint4syngap-raises-over-200k-for-syngap1-in-5th-annual-fundraiser/ MDBR just happened Four team members raised $15,795 so far. Thanks to Heather Mestemaker, Justin Albrecht, Aaron Harding, and Alicia Harrison. https://cureSYNGAP1.org/MDBR Harper $5k match! https://donate.curesyngap1.org/campaign/694764/donate Liam https://donate.curesyngap1.org/campaign/696438/donate Story https://donate.curesyngap1.org/campaign/695981/donate Thank you for your support, still matching! https://donate.curesyngap1.org/campaign/693597/donate Pubmed is at 24 (so less than one a week…) https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&timeline=expanded&sort=date&sort_order=asc Harrison paper on early exons and inherited mutations is great… https://www.eurekalert.org/news-releases/1088068 Cunnane DCM is out and Ingo noticed! https://epilepsygenetics.blog/2025/06/20/revisiting-syngap1-through-a-disease-concept-model/ She spoke at SRF Conference https://www.youtube.com/watch?v=nXagMfYh9VA SHARE BLOOD TO THE SRF BIOBANK AT CB! Read here for more information: https://curesyngap1.org/blog/fueling-research-syngap1-combinedbrain-biorepository-roadshow/ VOLUNTEER Join us: https://curesyngap1.org/volunteer-with-srf/ SOCIAL MATTERS - 4,185 LinkedIn. https://www.linkedin.com/company/curesyngap1/ - 1,380 YouTube. ...
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    28 mins
  • CAMP4, JAX and Allen present about ASCGT, JHU Article, CRISPR, Repurposing, 4PB & SRF News #S10e172

    CAMP4, JAX and Allen present about ASCGT, JHU Article, CRISPR, Repurposing, 4PB & SRF News #S10e172
    May 19 2025
    Sunday May 18, 2025. Week 21 Show notes on the site: https://curesyngap1.org/podcasts/syngap10/ CAMP4 Press Release https://investors.camp4tx.com/news-releases/news-release-details/camp4-presents-translational-data-syngap1-related-disorders Dr. Yuri at WODC: https://www.youtube.com/watch?v=oNwgo7TmrVo Presentation at ASGCT: https://investors.camp4tx.com/news-events/presentations GETA Talk: https://www.facebook.com/Syngapresearch/posts/pfbid08Aztex32vdwNZduVkPQeG353W49Dhq8iKJeZEkajKUmkeUiDdCwzyqa9ndEVpdCUl To get these Therapies to kids the NHS data is key, ProMMis CHOP - Email them ENDD@chop.edu Stanford (Singed!) - https://curesyngap1.org/blog/srf-announces-stanford-launches-california-synaptopathy-clinic/ CHCO - https://curesyngap1.org/blog/visiting-syngap1-natural-history-study-childrens-hospital-colorado-chco/ Citizen Health https://cureSYNGAP1.org/Citizen is at 267, why not 300? Hopkins article featuring SRF - Competition is good for the patient FB https://www.facebook.com/cureSYNGAP1/posts/pfbid07MP7St3zdxLKYXTJULKa5S35YvgL6AJndenHicedxU3rtQF6iY1wwwNUoDuUD9cpl LI https://www.linkedin.com/posts/curesyngap1_nih-cuts-stalling-progress-on-rare-genetic-activity-7328449817074946048-AAsB ASGCT Mouse poster for Q504X from the JAX, Dr. Matt SimonConf Video https://www.youtube.com/watch?v=loYXkkTSUIY Presentation on AAV for SYNGAP1 at Allen by Dr. Megan Quinlan What about this guy? Gift link: https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html?unlocked_article_code=1.H08.E-oX.t5bo6kxJGUOU&smid=url-share PBS: https://www.youtube.com/watch?v=dOeiPoa3gvM Eric Topol: https://erictopol.substack.com/p/the-first-human-to-undergo-in-vivo More incredible news https://news.unl.edu/article/husker-team-wins-second-round-prize-in-nih-gene-editing-challenge REPURPOSING Mike’s post in private SRF Group: https://www.facebook.com/groups/syngap #Amlexanox with Fortuity Pharma. https://fortuitypharma.com/ Butyrate Update https://aesnet.org/abstractslisting/phenylbutyrate-for-syngap1-related-developmental-and-epileptic-encephalopathy Trial ending at year end, working with SLC6A1 and Rachel Heilmann to continue coverage, then we can scale, once we have a paper. SunButyrate https://a.co/d/7kiHXS8 PUBMED 328 total with 20 YTD https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&sort=date&sort_order=asc&timeline=expanded Sleep https://www.sciencedirect.com/science/article/abs/pii/S1389945724005793?via%3Dihub SRF Fundraisers MDBR with AJH and HM https://curesyngap1.org/calendar/million-dollar-bike-ride-2025/ Well done to Tavilla and Jones! We are over $221k Tavilla clears $160k for Sprint. https://donate.curesyngap1.org/campaign/sprint4syngap2025/c660255 Porter Jones and his friends William, Patrick, and Judson raised over $10k in doughnuts, this netted over $8k because people donated. Amazing and thank you to Krispy Kreme. https://donate.curesyngap1.org/event/sweets-for-syngap1/e678677 SRF PROFILES Vicky post in Mexico https://www.linkedin.com/posts/victoria-arteaga-26913433_diagnostico-epilepsia-syngap1-activity-7329725268003069953-R41P Vicky’s Siblings Violeta and Lourdes, sisters to Amelia https://curesyngap1.org/syngap-siblings/ Harper Albrecht Wednesday Warrior #215 parents Ashley and Justin https://cureSYNGAP1.org/Warrior PREREGISTER FOR THE CURE SYNGAP1 CONFERENCE https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/
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    44 mins
  • ADULT 🇵🇹 🇫🇷 🇪🇸 🇳🇱 🇬🇧 🇨🇦 caregivers PLEASE complete Andrade Study ASAP. #S10e171

    ADULT 🇵🇹 🇫🇷 🇪🇸 🇳🇱 🇬🇧 🇨🇦 caregivers PLEASE complete Andrade Study ASAP. #S10e171
    May 1 2025

    Email: Ilakkiah.Chandran@uhn.ca about this study!

    Languages: English, Spanish, Portuguese and Dutch across the sites in Canada and Netherlands.

    All our kids will turn into adults and if you think people don’t understand our kids, wait till they turn into adults! It’s worse. There are less doctors who think in terms of genetic etiology (cause), which makes the literature so much more important. BTW, soon we will have treated and untreated!

    Dr. Andrade and her team are the best in the world. Dravet/SCN1A is “the one”

    Dr. Andrade has written multiple papers on Dravet and is the world leading expert on monogenic NDDs in adults…

    https://pubmed.ncbi.nlm.nih.gov/33677403/

    https://pubmed.ncbi.nlm.nih.gov/28186331/

    https://pubmed.ncbi.nlm.nih.gov/22780858/

    She’s even looking around corners… https://pubmed.ncbi.nlm.nih.gov/40034086/

    We have already been given a remarkable paper on SYNGAP1 in adults, but with a very low N=14: https://pubmed.ncbi.nlm.nih.gov/38045990/. Dr. A presented the related data at SRF Conf 2022. https://youtu.be/mRlCA816Af8

    CHD2 has one now as well: https://pubmed.ncbi.nlm.nih.gov/39601014/

    So there are 9,997 other genes of which at most 100 have decent PAGs which all would love Dr. Andrade and her team to do the same. So… this is our moment.

    Please let us know how we can help you to finish these questionnaires: info@cureSYNGAP1.org

    Thursday, May 1, 2025 #RareDisease #AdultPhenotype #AndradeRocks #SYNGAP1 #SynGAP #French #Portuguese #Spanish #Dutch #English #Brazil #UK #Canada
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    10 mins
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