Published on in CHOP News
In 2016, Adeline Vanderver, MD, a child neurologist and geneticist who specializes in leukodystrophies, joined Children’s Hospital of Philadelphia’s Division of Neurology, where she serves as Program Director of the Leukodystrophy Center of Excellence.
In this new role, Dr. Vanderver aims to take leukodystrophy gene discovery, advocacy, supportive care, and ultimately therapies, to the next level.
Leukodystrophies are a group of inherited degenerative diseases that affect the white matter in the brain and spinal cord. They are caused by genetic defects that affect growth or formation of the myelin sheath, which is soft, white, fatty material that acts as insulation surrounding nerve fibers. Without this protective coating intact, brain signals don’t travel effectively, and children with leukodystrophies face a range of potentially devastating neurological problems.
Currently, leukodystrophies number about 30 disorders, and scientists estimate they occur in 1 in 7,000 births. Despite the prevalence, leukodystrophies remain widely under-recognized. Both patients and many physicians know very little about these diseases.
“Most of these disorders are not curable at this point, but that doesn’t mean they’re untreatable,” Dr. Vanderver says. “A large amount of symptomatic management can be done to improve their health outcomes and quality of life.”
Dr. Vanderver and the multidisciplinary staff at the Leukodystrophy Center of Excellence are focused on creating new standards of care for patients to optimize their disease management. At the same time, research projects are underway that seek to discover molecular therapeutics that target the genetics of leukodystrophy subtypes.
“We’re hopeful that we’ll be able to take that list of 30 disorders and check them off one by one to get them diagnosed earlier and eventually to deliver therapeutics,” says Dr. Vanderver.
Read more about these efforts in a blog post from Children’s Hospital of Philadelphia’s Research Institute: Leukodystrophy Research, Advocacy Mission Critical for New Program Director.