Today, with a mix of pride and sadness, we are announcing the retirement of the SYNGAP1 Foundation —formerly known as the Bridge the Gap SYNGAP Education and Research Foundation. Founded as the very first organization in the world dedicated solely to SYNGAP1, we set out on a mission born from love, hope, and the fierce drive to find answers for families like mine who face the daily challenges of this rare genetic disorder. Since day one, we broke ground in ways that seemed impossible. We led the charge in clinical research, discovered biomarkers, and built the largest #SYNGAP1 research database worldwide. We started with just a handful of researchers and a dream, and today there are hundreds of experts and over a dozen companies globally focused on SYNGAP1. In 2020, we held the first FDA Patient-Focused Drug Development Meeting for SYNGAP1, sparking a surge in research. What we accomplished on a shoestring budget has attracted $67 million in public funding—all directed at a single gene we’ve come to understand as the foundation of precision medicine. As we retire the SYNGAP1 Foundation, we are ensuring that this mission will live on. We’re transferring our research database to a dedicated group of researchers who will continue advancing the work, and our website will remain as a legacy resource for the SYNGAP1 community—a reminder of where this movement started and of the lives we’ve touched. While this chapter closes, our journey is far from over. Our mission lives on in every family. https://lnkd.in/eeEhzUMZ
SYNGAP1 Foundation
研究服务
Washington，District of Columbia 2,261 位关注者
We are the worlds first research & advocacy organization, & hold the largest #SYNGAP1 NHS & Patient database worldwide.
关于我们
SYNGAP1 Foundation (501(c) 3) is a non-profit organization whose mission is to serve, educate, and fund research for families coping with the effects of SYNGAP1 mutations and overlapping neurological diseases and mental illnesses, such as Alzheimer’s, Parkinson’s’ and Schizophrenia that are linked to the SynGAP protein, which our children are lacking in the brain.
- 网站
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https://www.syngap1foundation.org/
SYNGAP1 Foundation的外部链接
- 所属行业
- 研究服务
- 规模
- 2-10 人
- 总部
- Washington，District of Columbia
- 类型
- 非营利机构
- 创立
- 2014
- 领域
- epilepsy、research、autism、education、awareness、policy、healthcare和advocacy
地点
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主要
获取路线
1012 14th St NW
500
US，District of Columbia，Washington，20005
动态
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DKI Health sponsored the first-of-its-kind study among 42 US-based patient organizations to measure how they think about health equity, where they have had successes, and what barriers still exist. The results of this study provided insights into initiatives that make a difference. We invite you to read our full report from the study here: https://lnkd.in/ecizFNWN Feel free to comment below and share your reactions to our findings. ? DKI Health would like to thank our Advisors who guided us on the need for this survey, provided input into the survey design, and reviewed the recommendations. Advisors: April Avilés, EdD, MPH, Racial Equity and Public Health Leader Courtney Bugler, CFRE, CEO and President, ZERO Prostate Cancer Philip Gattone, CEO, National Bleeding Disorders Foundation Jen Grand-Lejano, American Cancer Society Cancer Action Network Mary Kemp, Advocate, American Cancer Society Cancer Action Network Sue Koob, CEO, Preventive Cardiovascular Nurses Association Alisha Lewis, M.S., ACSM-EP, Founder and CEO, Genèsic Health Joe Nadglowski, President & CEO, Obesity Action Coalition Christian John Lillis, Co-Founder and CEO, Peggy Lillis Foundation Arya Singh, Advocate and Author Sharon Washington, Diversity, Equity and Anti-Bias Consultant We would also like to thank the patient organizations who participated in the survey and interviews. Select Participating Organizations: American Lung Association AXYS Bone Health & Osteoporosis Foundation CancerCare Colorectal Cancer Alliance Genèsic Health GRIN2B Foundation Hepatitis B Foundation Indo US Organization for Rare Diseases (IndoUSrare) International Pemphigus Pemphigoid Foundation INTERNATIONAL SACRAL AGENESIS CAUDAL REGRESSION ASSOCIATION LOWE SYNDROME ASSOCIATION INC Lung Transplant Foundation Marked By Covid National Health Council National Menopause Foundation Our Odyssey Peggy Lillis Foundation Pheo Para Alliance Progressive Familial Intrahepatic Cholestasis Advocacy Sepsis Alliance Spina Bifida Association of America Superficial Siderosis Research Alliance Superior Mesenteric Artery Syndrome Research Awareness and Support SYNGAP1 Foundation The Alliance to Cure Cavernous Malformation The Leukemia & Lymphoma Society VHL Alliance ZERO Prostate Cancer #DKImpact #healthequity #patientadvocacy
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DigitalDx Ventures Founder + Managing Partner Michele Colucci, Esq. will be a featured speaker for the Closing Keynote Panel at BioTechX USA (September 17 -18, Philadelphia). BioTechX is?America’s most exciting biotechnology congress, bridging the gap between pharma, academia and clinicians to foster meaningful collaborations. Colucci will take to the stage alongside Boehringer Ingelheim’s Head of Digital Transformation Victoria Gamerman, PhD and Women In Bio - Engage. Educate. Empower.’s National President Sarah O.deh, SYNGAP1 Foundations’s Founder Monica D. Weldon will moderate the esteemed panel. #venturecapital #venturefunding #venturenews #healthtechnews #womeninhealthtech #womeninai #ai #healthtech Beasley & McCusker Communications Carolyn Miller McCusker Stefanie Lingle Beasley
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Check this out…
Rappresentanza istituzionale e advocacy della comunità delle persone con malattie rare.
?Mercoledì festeggeremo una doppia ricorrenza. L'anniversario di UNIAMO, la Federazione nata 25 anni fa per unire la voce delle Associazioni e far conoscere le #malattierare a partire dai clinici, che al tempo non avevano idea di cosa fossero. Dal 1999 a oggi i traguardi raggiunti sono stati tanti e importanti, a cominciare dallo Screening Neonatale Esteso. Presenteremo poi la decima edizione di #MonitoRare, l'unico rapporto gestito interamente da un'organizzazione di pazienti, uno strumento di advocacy potente, perché andare a vedere con la lente d'ingrandimento se e come qualcosa si muove rappresenta una spinta di sistema?. Stamattina la Presidente Annalisa Scopinaro su Coffee Break La7, programma condotto da Andrea Pancani, ha potuto tracciare l'evoluzione del sistema malattie rare del nostro Paese e presentare la Convention MonitoRare 2024 (dando qualche piccola anticipazione). Rivivi la puntata ?? https://lnkd.in/dtp-4cvY Scopri di più ?? https://bit.ly/3RIuesd
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?? Exciting News for the Epilepsy Community! Have you heard about The National Plan for the Epilepsies? If not, it's time to get informed. Once passed, it will represent the largest federal investment EVER in the epilepsies! In alignment with the IGAP (Intersectoral Global Action Plan on Epilepsy and Other Neurological Disorders), the National Plan aims to: - Elevate epilepsy policy prioritization and strengthen governance - Ensure effective, timely, and responsive epilepsy diagnosis, treatment, and care - Implement strategies for epilepsy promotion and prevention - Foster epilepsy research and innovation while strengthening information systems - Strengthen the public health approach to epilepsy This National Plan will provide a clear, direct, and shared path toward a better future for everyone involved – from advocates and caregivers to researchers and clinicians. Learn more about it here: https://lnkd.in/egAJ6URd And stay connected with Otherside: https://lnkd.in/eUkuxd7U #epilepsy #epilepsyawareness #epilepsyadvocacy #epilepsyresearch #epilepsycommunications #epilepsynationalplan
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Yes! It’s International #SYNGAP1 Awareness Day! We are the proud parent organization that encouraged our worldwide Syngap1 Families to spread awareness in their own nations! To donate: https://lnkd.in/gTYFpPKx
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Thank you Neil for your amazing leadership and support!! ??????
Innovative CIO | Digital & AI Transformation Leader | Cloud & SaaS Transformation Leader | Product-Aligned IT Strategist | Multi-Industry | Driving Business Outcomes
?? My Fascination with Charlie Brown: A Leadership Journey Ever wonder why a seasoned CIO keeps Charlie Brown toys in his office? Here's why: ?? The Charlie Brown Connection: ? Persistent optimist in the face of challenges ? Loyal and focused on building strong relationships ? Committed to responsibility and credibility ? Lifelong learner always seeking improvement These traits mirror my own leadership philosophy and have been instrumental in my success as CIO. ?? How Charlie Brown's Traits Elevate Leadership: 1. Optimism → Opportunity Finder ??- See potential where others see obstacles ??- Maintain team morale during tough times 2. Loyalty → Trust Builder ??- Foster a supportive work culture ??- Increase employee retention and satisfaction 3. Responsibility → Accountability Champion ??- Lead by example ??- Encourage ownership at all levels 4. Continuous Learning → Innovation Driver ??- Promote a growth mindset ??- Adapt quickly to industry changes ?? Practical Leadership Advice: ? Embrace setbacks as learning opportunities ? Cultivate strong, trusting relationships within your team ? Stay committed to your principles, even when challenged ? Never stop learning and improving your skills Remember: Leadership isn't just about success; it's about resilience, relationships, and continuous growth. Let Charlie Brown remind you of these essential qualities. ?? My Leadership Journey: ? CIO driving AI, Digital Strategy, and delivering significant business value ? Board member: Colorado Technology Association, SYNGAP1 Foundation ? Governing Board: Evanta, a Gartner Company, TechYeet, ColoradoCIO ? Member: Colorado Space Business Roundtable, National Defense Industrial Association - (NDIA), IEEE, and others. ? Advocate for K12 Quantum education in Colorado ? IRONMAN finisher (1 x 140.6, 2 x 70.3) ? Father of 4 daughters, grandfather of 1, husband of 26 years ? Special Needs father ? Sensi and Owner of Ohana Martial Arts Academy LLC with my wife ? University of Phoenix graduate MS/IS, BS/M Leadership, like life, is a marathon. Stay persistent, optimistic, and true to your values. ?? Share your thoughts below and let's continue the discussion. ------------------------ If you found this helpful, consider reposting ?? and follow Neil D. Morris for more content like this. #LeadershipLessons #CharlieBrown #ExecutiveInsights #AIStrategy #CIOLife #ContinuousLearning #ResilienceInLeadership
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Excited to see the message of #SYNGAP1 being shared all over the world!
Professor of Epilepsy Genetics & Head of Dept. of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia / University of Southern Denmark I Epilepsy I Genetics I Precision Medicine
Today is international #SYNGAP1 Awareness Day ?? SYNGAP1 related non-syndromic intellectual disability is a rare genetic condition caused by genetic variants in the SYNGAP1 gene. The associated symptoms vary between individuals but may include: intellectual disability, #epilepsy, speech delay, autism, as well as sleep and behavioral disorders ?? Syngapians love water! Join the #Splash4Syngap campain & help them raising awareness ?? Learn more about #SYNGAP1 at SyngapResearchFund.org ?? SynGAP Research Fund (SRF) for SYNGAP1-Related Disorders SYNGAP Elternhilfe e.V. SYNGAP1 Foundation Syngap1 Argentina Syngap Espa?a Lorenz Kiwull J. Michael Graglia Peter Halliburton
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Happy Father's Day to all the incredible dads out there, especially those with special needs children. Your strength, patience, and endless love make the world a better place. Today, we celebrate you and the unique journey you embrace every day. Thank you for your unwavering support and for being a source of inspiration. #HappyFathersDay #SpecialNeedsDads #UnconditionalLove
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A legacy never dies!
Biotechnology | Applied Legal Professional | Strategist | Life Sciences Consultant | DOD | Industry Base Policy | Supply Chain Management | Author | KOL | Speaker
Hanging in the Halls of the FDA and National Institutes of Health are part of the SYNGAP1 Legacy! Forever and Always the beginning of SYNGAP1 as we know it today! For SYNGAP1 Awareness Month SYNGAP1 Foundation honored my son Beckett. He was the 6th patient diagnosed in the world in 2012. He was the inspiration for starting our organization, the first research organization in the world with the mission to drive research to treatments. We want to thank Beyond the Diagnosis for choosing Beckett to represent the #SYNGAP1 community. Read about Beckett’s story here and see the beautiful portrait by Ian Mohon. https://lnkd.in/ekGNv4e
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