Leukodystrophy | CHOP Research Institute


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.
Published on
Nov 21, 2019
New insights into Aicardi-Goutières syndrome propel experts to establish qualified outcome measures for clinical drugs.
Published on
Feb 1, 2018
Maria Kefalas and Pat Carr, and Matt and Lauren Hammond, two families affected by leukodystrophy, presented a check of $110,000 on behalf of The Calliope Joy Foundation to Children’s Hospital of Philadelphia (CHOP) at the Loie Hammond Memorial Lectureship held on January 25, 2018.
Published on
Feb 9, 2018
New results from the pivotal (CAR) T-cell therapy for ALL lead this week's roundup of CHOP research news.