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Perfect Friday afternoon! Met Helen Willsey awesome researcher UC San Francisco to talk about #STXBP1 My son & I got to tour her lab including checking out the amazing frogs and talking about #cilia. I've been so focused on the #synapse. Cilia are pretty cool #science #raredisease

Looking forward to our panel this afternoon at Precision Medicine World Conference on multi-modal datasets and RWE - important topic to advance #raredisease understanding and therapeutics RARE-X Global Genes #PMWC24

Important read. #Rarediseases are different than common diseases. We need different regulatory approaches, and to use #acceleratedapproval Matthew Ellinwood, CSO at the National MPS Society salon.com/2024/01/17/the…

Landed in Philadelphia! Here for tomorrow's Uplifting Athletes's Young Investigator Draft. Excited to congratulate our #STXBP1 grantee Noah Guiberson, PhD 🧠🐭🐛 from Weill Cornell Medicine stxbp1

Excellent panel on Venture Philanthropy. Foundation investment arms provide resources beyond capital including disease-specific knowledge and models to support study design and improve likelihood of success. #raredisease Cystic Fibrosis Foundation CureDuchenne Epilepsy Foundation of America Foundation Fighting Blindness

With today's announcement from Encoded Therapeutics, the #Dravet trials with gene therapy ETX101 are: - Australia WAYFINDER: 4 kids ages 3-7 - USA ENDEAVOR: 4 kids under 3 (part 1) - UK EXPEDITION: 4 kids under 4 All to start in 2024 to measure safety, tolerability and efficacy signal.

I was honored to speak at the first ever White House Rare Disease Forum, last week during Rare Disease Week. A key theme: patients and patient advocates are transforming the research & therapy development landscape in #raredisease. Check it out: youtube.com/watch?v=uG43oL…

My 'Dancing to a Different Tune' interview with Ceridwen Hughes for #RarityLife is now online! If you haven't seen this new magazine yet, they do a wonderful job uplifting rare and storytelling. Rarity Life samebutdifferentcic.org.uk/raritylife Issue 9 Global Genes stxbp1 #STXBP1

On the plane to the RARE Drug Development Symposium! Looking forward to connecting with inspirational #nextgen patient advocates who are changing the landscape of rare disease and accelerating research and therapy development

If you take money from a rare disease foundation, don’t over promise and don’t ghost them.

I am deeply honored to be the 2024 Termeer Scholar. The Termeer Foundation continues Henri Termeer's legacy of developing values-driven leaders who are driving patient-centered innovation in healthcare. Thank you Termeer Foundation termeerfoundation.org/2024/06/07/ter…

The Science + Love = CURE Podcast #15 is here! This is the #STXBP1 10 minute monthly update with Charlene Son Rigby Check it out here: youtube.com/watch?v=UKLfKf… Miss any of the previous updates? stxbp1disorders.org/podcasts 📷

Our paper "STXBP1: fast-forward to a brighter future – a patient organization perspective" is out - in special issue of "Therapeutic Advances in Rare Disease" Focus is on our research strategy including #STXBP1 Fast Forward strategic plan doi.org/10.1177/263300… stxbp1

Really enjoying Rarity Life Issue 10! Rarity Life issuu.com/raritylife/doc…

Join us in 2 weeks at Week in RARE! Whether you join us in Kansas City or participate virtually, there's still time to secure your spot. Sessions on #raredisease advocacy, community building, research readiness, health equity. And lots of Networking! bit.ly/3MGQUWJ

Shelby Miller’s son, Kyler, threw out the first pitch to his dad today 🙌 Kyler has STXBP1 disorder, and September is STXBP1 awareness month. Shelby and his wife Erika are donating $200 per Tigers strikeout during today’s game to the STXBP1 foundation, which will be matched by

Delighted to be at the Notre Dame Rare Disease Patient Advocacy Summit I'm speaking with Vikram Karnani Amgen 🧪🔬🧬 on Harnessing Collective Strength for a Brighter Future If you aren't at this beautiful campus today, livestream! patientadvocacy.nd.edu/events/2024/10… Global Genes stxbp1

Honored to speak at the Milken Institute Future of Health Summit. I'm moderating the "Beyond Checkboxes: Elevating Diversity and Representativeness in Patient Engagement" panel on Thursday If you aren't in DC in person, you can join livestream 👇 #MIHealthSummit Global Genes

Check out the findings from the #RareDisease Diagnostic Odyssey Roundtable. It was a pleasure to take part in this important discussion to identify rare disease #Diagnosis barriers and solutions. endtherarediseaseodyssey.com Travere Therapeutics Global Genes

Had our Children's Hospital Colorado visit to #STXBP1 STARR Natural History Study + Multidisciplinary Clinic! Big day for my daughter. So fun with the amazing medical team Juno loves airplanes but was exhausted on the way home. Check out her AAC msg Want to enroll? bit.ly/STX-STR