SynGAP10 weekly 10 minute updates on SYNGAP1 Podcast Por Syngap Research Fund 501(c)(3) arte de portada

SynGAP10 weekly 10 minute updates on SYNGAP1

SynGAP10 weekly 10 minute updates on SYNGAP1

De: Syngap Research Fund 501(c)(3)
Escúchala gratis

Acerca de esta escucha

 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. Ciencia Ciencias Biológicas Economía Enfermedades Físicas Gestión Gestión y Liderazgo Higiene y Vida Saludable
Episodios
  • CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174

    CENSUS, SYNGAP1. It is racing to a better future b/c of our families. #S10e174
    Jul 7 2025
    July 7, 2025 Week 28 ADAMS CAMP https://curesyngap1.org/podcasts/syngap10/adams-camp-is-amazing-so-are-compression-vests-s10e110/ CENSUS & WHY WE WILL SEE MORE PATIENTS AAP recommends Whole Exome as a first line test for GDD/ID. https://www.linkedin.com/posts/ambry-genetics_exome-cns-patientforlife-activity-7343354049586466816-Jbq_ SYNGAP1 Census 2Q25 +55; new total 1,636, but we need to look at country by country to appreciate how low that is. https://curesyngap1.org/census/ https://docs.google.com/spreadsheets/d/1oJwMysR2wyTxe91zLlKJglNa0NySPxkBF0PRiV6mBmM/edit?gid=0#gid=0 First patients from Bulgaria, Pakistan, Paraguay, and Uruguay. US, Germany & France growing but UK standing still? WARRIORS & PARENT STORIES https://curesyngap1.org/syngap-warriors/ Charlotte - Charlotte is 18 months old - diagnosed on May, 2025, just over a month ago. Already been to UNC and planning to go to CHOP. 17I thought it was worth noting the fast action this family is taking. Martina - First patient from Uruguay. SYNGAP1 Stories episode 35 Nicole Ciccone, son Jackson (from Georgia, near Atlanta) cureSYNGAP1.org/Stories IMPORTANT SRF POSTS Webinar #108 - Repurposing opportunity for SYNGAP1 Specific nonsense mutations with Dr Bruce Bloom, Founder of Fortuity Pharma is up https://curesyngap1.org/resources/webinars/webinar-108-fortuity-pharma-repurposing-nonsense-mutations/ VOLUNTEER SHOUT OUT Suzanne Vreeland Jones for helping get the resource mobilization group organized in general and attending so many meetings, applying for grants, organizing the drive, and creating a fundraising plan for the rest of the year. And just generally caring about what’s going on and what needs to get done. She’s also the board chair and organizes all of that every 6 weeks. Then there’s so much she’s done and is doing for the conference so far as it is in Atlanta. We can trust it will be a nice event with her helping and being so close. CONFERENCE - DECEMBER 4th & 5th Hotel has been selected for Atlanta - Georgia Tech Hotel & Conference Center; see cureSYNGAP1.org/Atlanta FUNDRAISING - SIBLINGS ARE THE NEXT GEN OF SRF Fundraiser - LOVING ON LIAM - Emma's Hope for a SYNGAP1 Cure; fundraiser by Liam's sister Emma, who is promising a handmade pin for $5+ donations and over $100 a front flip off the diving board - cureSYNGAP1.org/Liam raised $2,370 in June! WEBINAR #108 - Repurposing opportunity for SYNGAP1 nonsense mutations with Dr Bruce E. Bloom from Fortuity Pharma is up on YouTube https://youtu.be/4nqCLwuikIE?si=xWtbw-5OP_uMBwK5 and our website cureSYNGAP1.org/Webinars PRESS RELEASE https://curesyngap1.org/blog/prof-kristian-stromgaard-awarded-cure-syngap1-grant-research-biomolecular-condensates-pr40/ WHY OUR RESEARCH MATTERS Bowie Lab Talk on Glutamatergic Neurons. We learn about Intelligence from studying ID. https://www.youtube.com/watch?v=sfcN2BuZOJw NUMBERS PUBMED 334, 26, so -1 vs. weeks. Follow on Youtube and LinkedIn, they matter. https://www.linkedin.com/company/curesyngap1/ 4,221 https://www.youtube.com/@CureSYNGAP1 1,390 #S10e173 CORRECTION I credited the Sprint blog to "probably Ed". Thanks, but that one was coordinated by Jo Ashline. NICOLE’S POST I hate Autism Awareness Month. It stirs up so many emotions- anger, grief, and frustration for everything autism has taken from my son. Dear Syngap, It’s me again. You’d think after all this time, we’d have some kind of understanding. But we don’t. We never will. You barged into our lives uninvited, turned our world upside down, and refused to leave. You’ve taught me lessons I never asked for, dragged us down roads we never wanted to travel. You’ve humbled me, broken me, enraged me. I’ve cried because of you. Screamed into the silence. Begged the universe for answers it refuses to give. I’ve celebrated victories that should have been simple, ordinary things—but with you lurking in the shadows, nothing is ever simple. If I’m being honest, I hate you. I hate what you’ve done to my son. I hate that you’ve taken things from him that should have been his without question—his voice, his strength, his ease of movement, his peace. One day, he climbs like he was born to conquer mountains. The next, he struggles to take a step. You’re a thief, Syngap. You steal his vision, rob him of his muscle tone, drain his energy until even smiling feels like work. You wrap yourself around his body, his mind, his very existence, and no matter how hard I fight, you never let go. You make him miserable. And I hate you for it. You turn his nights into a battlefield, his sleep stolen by seizures, restlessness, and the chaos you planted in his brain. You keep his words locked inside, hidden in a place I can’t reach. And God, how I wish I could reach them. How I wish I could hear his thoughts, understand the words he wants so badly to say. Instead, I watch. I listen. I hold him when the frustration turns to tears,...
    Más Menos
    16 m
  • 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. ...
    Más Menos
    28 m
  • 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/
    Más Menos
    44 m
Todavía no hay opiniones