MED13L Research Update: Where We Are and Where We’re Headed.

In this special research update episode of Voices of MED13L, Rowan Dias opens with reflections from the World Orphan Drug Congress and the MED13L Foundation’s first year participating in the Million Dollar Bike Ride before introducing a recorded community update with Dr. Ricardo Ramirez, Chief Scientific Officer of The MED13L Foundation.

Dr. Ramirez walks families through the Foundation’s current research priorities, including natural history studies, adult outcomes, community surveys, biomarkers, drug repurposing, gene therapy, and the path toward future observational studies. He also addresses questions from the MED13L community about speech development, treatment timing, variant types, long-term care, sleep, the gut-brain connection, and how families can participate in research.

This episode offers an accessible overview of where MED13L research stands today, why community participation matters, and how the Foundation is working to move science forward with urgency, safety, and the voices of families at the center.

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Resources

MED13L Awareness Campaign: https://secure.qgiv.com/event/med13lfoundationp2p/

Profile Frame for Socials: https://twb.nz/med13lfoundation

Be Counted in the 2025 Census: https://med13l.org/patient-registry-genetic-report-stubmission/

Million Dollar Bike Ride: https://charity.pledgeit.org/MillionDollarBikeRide/teams/@med13l

Community Checklist: Google Drive Link

CRID: thecrid.org

Citizen Health: citizen.health/partners/med13l-foundation

Simons Searchlight: https://research.simonssearchlight.org/account/create

Rare-X: rare-x.org/med13l

Website: med13l.org

Facebook: facebook.com/med13lfoundation

Instagram: instagram.com/med...