The MED13L Foundation
MED13L Syndrome
MED13L Syndrome is a rare neurodevelopmental disorder caused by changes in the MED13L gene, which regulates gene expression and development. It is characterized by intellectual disability, developmental delays, speech impairments, and hypotonia, with some individuals experiencing epilepsy and heart defects. MED13L is unique due to its broad symptom spectrum, variable severity, and growing recognition as a top autism-associated gene, though it remains significantly underdiagnosed.
Patient population
- 6 in 100000 prevalence
- 500 patients engaged
- 375 patients in the US
- 415,000 patients globally
Disease categories
Causal genes
Associated genes
About us
The MED13L Foundation strives to spread awareness, provide family support, and advance medical research in search of a cure for MED13L syndrome.
Website
Therapeutics of interest
Therapeutics in development
Members
Katie Barry Boychuck
Phillip Buta
Ashley Winslow
Ricardo Ramirez
Research plans
Title | Research strategy | Stage | Status | Partners | Description | Links | Number of projects |
|---|---|---|---|---|---|---|---|
Data collection across orthogonal platforms and technologies | Therapeutic-agnostic tool development | Discovery | Ongoing | -- | Useful in mechanistic understanding of MED13L Syndrome or discovery based applications that may transcend multiple areas of research within the organization. | -- | |
Biomarker development | Therapeutic-agnostic tool development | Discovery | Ongoing | -- | Identify clinical biomarkers from various data platforms and technologies. | -- | |
Mouse research | Therapeutic-agnostic tool development | -- | -- | -- | -- | -- | |
Drug screening research plan | Drug screening or repurposing | Discovery | Ongoing | -- | Evaluating available drug compounds including Clofibrate/Bezafibrate, Lithium, Verapamil, PSE, EPA and DHA, and Ginkgo biloba. | -- | |
Gene therapy research plan | Gene editing | Discovery | Ongoing | -- | This research plan is designed to develop and evaluate therapeutic strategies that utilize Gene editing technologies to deliver a gene to target cells in the body, with the hope of treating and potentially curing inherited or acquired diseases at the molecular level. | -- |