The Myelin Disorders Biorepository Project (MDBP) gathers and examines medical data and samples from people with leukodystrophies, which are rare genetic disorders affecting the brain's white matter, or myelin. The project aims to find new genetic causes, create markers for future studies, and understand more about these disorders. Leukodystrophies can be hard to diagnose, often taking up to eight years and costing a lot. New techniques, like whole exome sequencing (a method that examines all the genes), make diagnosing more accurate. However, many patients still don't get a clear diagnosis.
Researchers want to group patients with unidentified leukodystrophies, use sequencing for diagnosis, and learn more about known leukodystrophy diseases. They also aim to improve patient care and contact participants for future research. The study involves providing clinical data and samples. Anyone, with or without leukodystrophy, can join if they meet the criteria and give consent.
- The study has been collecting data for over ten years and has nearly 2,000 participants.
- Participants must be willing to share medical data and/or samples.
- Consent from the participant or guardian is required.