Posted by: Vanessa Dias
The MED13L Foundation Nominated for the 2026 Prix Galien USA Best Patient First Award in Honor of Michael J. Fox
Recognition honors the Foundation’s patient-led research ecosystem, “From Families to Frontiers,” which has built an integrated drug-discovery pipeline for MED13L syndrome.
CHICAGO, IL, September 14, 2026 — The MED13L Foundation has been nominated for the 2026 Prix Galien USA Best Patient First Award in Honor of Michael J. Fox, one of the most prestigious honors in biomedical innovation, recognizing organizations that place patients at the center of research and drug development. The nomination celebrates the Foundation’s initiative, From Families to Frontiers: A Patient-Driven Research Ecosystem for MED13L Syndrome, a model in which patients and families do not merely participate in research, but constitute its infrastructure, governance, and biological foundation.
Established in 2017 by a parent and led today by an all-parent board of directors, The MED13L Foundation has grown into a patient-driven research organization representing more than 720 families worldwide. In under four years of active research, the volunteer-led Foundation, without pharmaceutical partnership or venture funding, has secured an ICD-10 diagnostic code, built a biorepository from more than 50 affected individuals, directed over $1.5 million in research funding, and generated peer-reviewed discoveries that have identified and validated candidate therapies now positioned for clinical testing.
“Support and awareness were no longer enough,” said Katie Barry Boychuck, President of the MED13L Foundation. “Just four years ago, our families were handed a diagnosis, told there were no treatments, pointed to a Facebook group, and sent on their way. A small group of parents stepped up to build what did not exist. We built the infrastructure, generated the data, and funded the science that moved MED13L Syndrome from a diagnosis with no roadmap to candidate therapies positioned for clinical testing. I am grateful to every family who trusted us with their story and chose to make it count. This nomination belongs to them.”
The Foundation functions as an integrated research enterprise. Its plasma proteomics study revealed immune dysregulation as a dominant biological signature of MED13L syndrome and nominated candidate therapies; patient-derived stem-cell models and computational drug-repurposing analyses independently converged on the same therapeutic classes; and the Foundation is the sole funder of the ACTION for MED13L natural history study at Boston Children’s Hospital, which is defining the clinical endpoints required for future trials. In 2026, the Foundation has begun aligning through a cross-disorder alliance with the MED12 and MED13 Foundations, sharing infrastructure across the related “medopathies.”
“What makes this model powerful is that every discovery traces directly back to a family’s decision to participate,” said Ricardo N. Ramirez, Ph.D., Chief Scientific Officer of The MED13L Foundation. “Patient-donated biospecimens fuel our therapeutic programs, our natural history study is defining the endpoints needed to prepare us for future clinical trials. This is a patient organization executing a full drug-discovery pipeline, and it is a blueprint that hundreds of other rare-disease communities could adopt.”
“When a condition is this rare, every family matters and every story adds to our understanding,” said Vanessa Dias, Vice Chair of the MED13L Foundation and parent of a child with MED13L Syndrome. “Our job is to find those families, wherever they are in the world, and give them a way to contribute. By bringing families, scientists, and clinicians together, individual experiences become data, data becomes discovery, and discovery creates a path toward the clinic.”
The Prix Galien USA Awards, often referred to as the “Nobel Prize of biomedical research,” recognize outstanding achievements in improving human health. Nominees for the 2026 Best Patient First Award in Honor of Michael J. Fox will be celebrated at the Prix Galien USA ceremony later this year.
The MED13L Foundation remains committed to a simple principle: every advance is engineered to be shared across families, across borders, and across rare disease.
