Leukodystrophy | CHOP Research Institute


Published on
Jun 13, 2024
At CHOP’s Leukodystrophy Center, researchers are aiming to reduce the length of the prolonged diagnostic odyssey that many patients with MLD encounter.
Published on
May 15, 2024
Many of the great minds at CHOP convened on April 30 and May 1 to share how their research is expanding our understanding of pediatric neuroscience.
Published on
Aug 31, 2023
Children’s Hospital of Philadelphia is the lead study site for the development of a gene therapy for multiple sulfatase deficiency.
Published on
May 12, 2021
In this guest blog, Sunetra Sase, PhD, discusses the CHOP Postdoctoral Alliance Women in Science Committee.

While recent research has demonstrated that whole genome sequencing is a powerful first-line diagnostic tool, important questions remain around its long-term impact on downstream clinical management approaches.

This study involves the collection of medical information and samples from people with a confirmed or suspected leukodystrophy or related disorder affecting the white matter of the brain, as well as "healthy controls" who are not known to be affected by one of these disorders.

The Vanderver Lab uses a translational, multi-stakeholders research model to investigate underlying causes and clinical manifestations of leukodystrophies and other related white matter disorders, in order to support meaningful advances in the diagnosis and treatment of these conditions.

Dr. Waldman works to understand metrics to quantify disease burden in acquired and genetic neurologic disorders that affect the white matter of the brain. She also focuses on clinical trial methodology to bring novel therapies to neurodegenerative diseases.

waldman [at] chop.edu

Using an integrated and multidisciplinary approach to addressing the unique needs of infants, children and adolescents with inherited white matter diseases.

Published on
Sep 11, 2020
This week’s roundup features research exploring the value of well care as voiced by Black adolescent males and their parents. This and more In The News.