For Patients
Partnerships for MED13L Syndrome
The MED13L Foundation
The MED13L Foundation strives to spread awareness, provide family support, and advance medical research in search of a cure for MED13L syndrome.
RESEARCH STUDY
ACTION for MED13L
PI: Maya Chopra, MBBS, FRACP | Natural History Study
The MED13L Syndrome cohort of the ACTION Initiative, led by geneticist, Dr. Maya Chopra and neurologist, Dr. Sara Trowbridge, has been established in collaboration with the MED13L Foundation. Data collection for the cohort leverages RSZ TNC resources shared across several Natural History Study cohorts, with neurobehavioral assessments and medical history collection designed specifically for MED13L Syndrome. Data collection will occur annually for three years and will include an interview with the study team, physical and neurological exams, neurobehavioral assessments and questionnaires, medical record collection, and optional collection of photographs and/or blood samples. Participants may complete data collection in-person at Boston Children’s Hospital or virtually, with the option to complete initial data collection at the MED13L Foundation’s 2025 Research and Family Meetup in Waltham, MA.