The Myelin Disorders Biorepository Project (MDBP) collects and studies samples from people with leukodystrophy, a group of rare brain disorders. These disorders affect the white matter in the brain, which is like insulation for brain cells. The project aims to help researchers find new causes for these disorders, create tools to help diagnose them, and learn more about how they develop over time.
In the past, diagnosing these disorders was difficult and expensive. New methods like whole exome sequencing, which looks at a person's genes, are improving diagnosis rates. However, about one-third of patients still don't receive a clear diagnosis. This research hopes to change that by finding new information and improving care and treatment options for people with leukodystrophies.
- The study is open to all ages with suspected or confirmed leukodystrophy, or healthy individuals without these disorders.
- Participants must give consent and be willing to share medical data and samples.
- The project is ongoing, with no specific end date mentioned.