Leukodystrophy and Myelin Disorders Program

Research

The Leukodystrophy and Myelin Disorders team is internationally renowned for leukodystrophies and genetic leukoencephalopathies research. The program applies a “bench-to-bedside” approach and makes cutting-edge treatments available to patients.

For more information about our program, current studies or research programs, please email Jamie Fraser, MD, (PI) or our team.

Our Research Projects

The Global Leukodystrophy InitiAtive (GLIA)

The team and program at Children’s National are important components of the Global Leukodystrophy Initiative (GLIA), a global consortium uniting clinicians, researchers, and patient advocacy groups to advance care and research priorities for leukodystrophy patients. This consortium has published a series of consensus papers concerning the definition of leukodystrophies and genetic leukoencephalopathies, diagnosis, care, and therapies for leukodystrophy patients.

Their mission extends to advancing newborn screening and diagnostic platforms in leukodystrophies, establishing natural history studies to inform standards of care and clinical trial design, and increase the rate of development of therapeutic approaches.

The Myelin Disorders Bioregistry Project (MDBP)

Unsolved Leukodystrophies

Many patients affected with leukodystrophy never achieve a specific diagnosis, which impacts understanding how the disease will progress, predicting symptoms, and family planning. The Myelin Disorders team is committed to decreasing the rate of unsolved leukodystrophies from over half to less than 10%. To this end, the team has started a clinical trial to test the effectiveness of powerful genetic techniques called next generation sequencing, in leukodystrophy patients.