The MED13L Foundation has completed a five-year analysis of MED13L registry data from Simons Searchlight, led by Ricardo Ramirez, the Foundation’s Chief Scientific Officer. Drawing on 17 quarterly reports from 2021–2026, this analysis provides our clearest view yet of how the MED13L community has grown and what we are learning about the shared clinical features…
In June 2026, the MED13L Foundation surveyed families about their children’s use of NSAIDs, including ibuprofen, following repeated reports of changes that appeared to extend beyond expected effects on fever or pain. While this small, family-reported survey cannot establish efficacy or causality, the responses provide an important signal that warrants systematic investigation. 17 families responded,…
Collaborative initiative will evaluate an innovative RNA-based strategy to restore gene expression and accelerate therapeutic development for MED13L Syndrome and other rare neurodevelopmental disorders. CHICAGO, IL – August 5, 2026 – The MED13L Foundation today announced its participation in a collaborative research initiative led by COMBINEDBrain and Johns Hopkins University (JHU) to evaluate a novel RNA-based…
Friday, December 5th, 2025 The MED13L Foundation is pleased to announce the execution of a Sponsored Research Agreement with the University of California, San Francisco (UCSF) to support a new study titled “CRISPRa Proof of Concept Constructs for MED13L Haploinsufficiency.” This agreement provides $165,000 in support for a two-year research period. The project will explore…
A recent article in Brain & Life highlights the powerful role of families in rare disease advocacy—including the efforts of MED13L Syndrome parents. The piece showcases how grassroots advocacy drives research and awareness for rare neurodevelopmental disorders. While the article covers multiple conditions, it underscores a critical truth: families are the catalyst for progress. At the MED13L Foundation, we see…
As featured in Brain & Life Magazine BOSTON, May 5, 2025 — The MED13L Foundation today announced a nearly $250,000 grant to help launch an innovative natural history study at Boston Children’s Hospital’s Rosamund Stone Zander Translational Neuroscience Center (RSZ TNC). The MED13L Syndrome Investigation of Natural History and Development (MIND Study) is a three-year…
One step closer to a therapeutic treatment. Could it be this easy? We Have a Hit! Rarebase Delivers. It’s not a home run, but a solid double from Rarebase! After a long couple of years and two rounds of testing, naproxen was shown to upregulate MED13L mRNA in MED13L patient-derived neurons
Have you been wanting to get involved in the MED13L Foundation? Here is a great way! We are starting to plan for… World MED13L Syndrome Day – 2023 …and we want YOU! We are looking for International and US Regional Ambassadors to lead the way. Please choose the day that works for you, date with…
On December 6, 2022 Board Members Vanessa Dias and Katie Boychuck took some time to come into a zoom call and answer questions. It was a great success and we look forward to organizing more of these in the future.
Hello MED13L Families, The MED13L Foundation is coordinating an in-person Family Meet Up on Sunday April 30th, 2023 at the Adventure Aquarium in Camden, NJ at 11:30 am, with a 3:00 pm pizza party. The MED13L foundation has agreed to cover the aquarium tickets for the MED13L individual + 1 family member. RSVP HERE for the Aquarium Family…
