『CURE SYNGAP1 PODCAST aka SYNGAP10』のカバーアート

CURE SYNGAP1 PODCAST aka SYNGAP10

CURE SYNGAP1 PODCAST aka SYNGAP10

著者: Syngap Research Fund 501(c)(3)
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Over 1,600 families are caring for a loved one with the rare disease ”SynGAP” resulting from a variant of the SYNGAP1 gene. This 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 CURE SYNGAP1. CURE SYNGAP1 is a parent-led 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://cureSYNGAP1.org

Copyright 2021-5. CURE SYNGAP1. All rights reserved.
マネジメント マネジメント・リーダーシップ 生物科学 科学 経済学 衛生・健康的な生活 身体的病い・疾患
エピソード
  • New book by #SYNGAP1 mom for and about #GlassChild (Sibling of Special Needs) #S10e191
    2025/12/01

    #CyberMonday, December 1, 2025. Week 49.

    Go buy The Monster Inside My Brother by Nicole Ciccone illustrated by Lena Bardy.

    Bookshop: https://bookshop.org/p/books/the-monster-inside-my-brother-nicole-ciccone/8986b9c64d1ebe5d?ean=9798999980700&next=t&

    Barnes and Noble: https://www.barnesandnoble.com/w/the-monster-inside-my-brother-nicole-m-ciccone/1148368158

    Amazon: ​​https://a.co/d/imfxmwG

    See you Thursday at the CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

    SOCIAL MATTERS

    4,474 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $3.80 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Episode 191 of #Syngap10 #CureSYNGAP1

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    14 分
  • AAV. Resources on cureSYNGAP1.org. Congrats to Ultragenyx & Novartis. Conf is in 5 days! #S10e190
    2025/11/27

    Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

    Continued from #S10e189…

    And the AAV Paper (https://pubmed.ncbi.nlm.nih.gov/40988338/) from #S10e187… https://curesyngap1.org/podcasts/syngap10/clinical-research-ai-dx-nl47-survey-autism-press-6-days-to-register-for-syngap1conf-s10e187/

    https://curesyngap1.org/blog/

    Issac’s story, Transmitter reprint, Scramble 4 write up and JK on #Autism, #MustRead

    https://curesyngap1.org/resources/webinars/ 119 - 112

    Register for livestream of the conference, AAV from Allen Inst., dos en espanol, Missense, Unlock and Rare-X for ProMMiS.

    https://curesyngap1.org/podcasts/syngap1-stories/

    A gold mine have you listened to #38, the Virginie Pod, really must listen, she is our leader. https://www.linkedin.com/posts/graglia_syngap1stories-syngap1-syngap1storiesty-activity-7387203351907708928-liNL

    CLINICAL TRIAL & GENETIC MEDICINE CORNER

    Example of Ultragenyx FAST Angelman follow on trial to look at other ages and genotypes, key message, never give up. https://www.linkedin.com/posts/cureangelman_the-global-aurora-study-will-enroll-approximately-activity-7389647402690957312-Bihi Congrats to Novartis on approval of the first Gene Therapy to Cure SMA!

    https://www.linkedin.com/posts/graglia_sma-fdaapproval-rarediseaseinnovation-activity-7398939783005347840-Ocd_ Remember Spinraza was approved in December 2019.

    TODOS

    1. Sign up for Citizen Health: https://www.citizen.health/partners/srf
    2. USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU
    3. Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

    SOCIAL MATTERS

    4,468 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Episode 190 of #Syngap10 #CureSYNGAP1

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    10 分
  • #CureSYNGAP1 Conf: 1 week! #GivingTuesday: 5 days. #ProMMiS. Mvmt & Sleep papers. #S10e189
    2025/11/27

    Happy Thanksgiving… Thursday, November 27, 2025. Week 48.

    https://curesyngap1.org/clinical-trials/ Emerald from Praxis for Relutrigine and DeeP Ocean from Longboard for Bexicaserin. Check them out, screen for both. See what you can do!

    Hectic with #MIHealthSummit, Tony at home, an NHS visit, Ultrabootcamp, not to mention prepping for the most elaborate conference yet!

    MI https://www.linkedin.com/posts/raymond-puerini_medtech-patientengagement-mihealthsummit-activity-7392679496266436608-7kWo

    Bootcamp https://www.linkedin.com/posts/graglia_rarebootcamp-syngap1-precisionmedicines-activity-7396249525214031872-RvsX

    ProMMiS - Meet committed clinicians, get great care and build the future of SYNGAP1 clinical medicine.

    Upcoming Stanford enrollment dates: December 10–11, 2025: 2 slots, February 25–26, 2026: 2 slots, May 27–28, 2026: 2 slots to enroll email prommis@curesyngap1.org

    GIVING TUESDAY

    1 week to go. Set up an Unlock fundraising page now and send it out BEFORE Tuesday December 2nd! cureSyngap1.org/unlock or for more info: https://curesyngap1.org/podcasts/syngap10/time-to-unlock-their-tomorrow-raise-funds-camp4-our-name-s10e188/

    Video: https://www.linkedin.com/posts/curesyngap1_curesyngap1-syngap1-activity-7399492685474009088-DXWI

    CONFERENCE

    - Record Headcount over 20% increase: Scientific: 237 & Caregiver Connect: 180 (of which 26 patients)

    - Agendas are up: https://curesyngap1.org/calendar/cure-syngap1-conference-2025-hosted-by-srf/

    - Volunteer with us: stacey@cureSYNGAP1.org

    PAPERS

    PUBMED at 52, and low. Clinical research! 181 / 359 = more than half of the knowledge on S1 in the past 4 year!

    https://pubmed.ncbi.nlm.nih.gov/?term=syngap1&filter=years.2025-2025&sort=date

    Movement disorder comparison: https://www.medrxiv.org/content/10.1101/2025.11.04.25339413v1.full.pdf

    SLEEP - SRD Patients are the worst https://pubmed.ncbi.nlm.nih.gov/41138043/ aligned with CSH paper https://pmc.ncbi.nlm.nih.gov/articles/PMC8472329/

    TODOS

    1. Sign up for Citizen Health: https://www.citizen.health/partners/srf
    2. USE YOUR ICD-10 F78.A1 #S10e185 https://www.youtube.com/watch?v=dale0NbxDpU
    3. Go to CURE SYNGAP1 Conference 2025 Atlanta: https://curesyngap1.org/events/conferences/cure-syngap1-conference-2025-hosted-by-srf/

    SOCIAL MATTERS

    4,468 LinkedIn. https://www.linkedin.com/company/curesyngap1/

    1,480 YouTube. https://www.youtube.com/@CureSYNGAP1

    11.2k Twitter https://twitter.com/cureSYNGAP1

    45k Insta https://www.instagram.com/curesyngap1/

    $CAMP stock is at $3.62 on 26 Nov. ‘25 https://www.google.com/finance/beta/quote/CAMP:NASDAQ

    Episode 189 of #Syngap10 #CureSYNGAP1

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    10 分
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