Leukodystrophy | CHOP Research Institute
 

Leukodystrophy

Making Way for Gene Therapy in Rare Disease

Published on
Aug 31, 2023
in Cornerstone Blog
Laura Adang. MD, PhD, (left) and Rebecca Ahrens-Nicklas, MD, PhD, holding one of their dear patients
Children’s Hospital of Philadelphia is the lead study site for the development of a gene therapy for multiple sulfatase deficiency.

CHOP Postdoctoral Alliance Spotlights Women in Science Committee

Published on
May 12, 2021
in Cornerstone Blog
CPA Spotlights Women in Science Committee
In this guest blog, Sunetra Sase, PhD, discusses the CHOP Postdoctoral Alliance Women in Science Committee.

LeukoSEQ: First-Line Whole Genome Sequencing in Leukodystrophies

LeukoSEQ: First-Line Whole Genome Sequencing in Leukodystrophies

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.

The Myelin Disorders Biorepository Project (MDBP)

The Myelin Disorders Biorepository Project (MDBP)

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.

Vanderver Laboratory

Vanderver Laboratory

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.

Amy Waldman, MD, MSCE
Amy T. Waldman

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.

E-mail:
waldman [at] chop.edu

Leukodystrophy Center of Excellence

Leukodystrophy Center of Excellence

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

Safest Cars; Welcome, Dr. Theodore Laetsch; Black Adolescent Males; Genetic Epilepsies; Aicardi-Goutières Syndrome

Published on
Sep 11, 2020
in Cornerstone Blog
In the News
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.

Multi-site Study Builds Better Clinical Trials for Aicardi-Goutières Syndrome

Published on
Nov 21, 2019
in Cornerstone Blog
Leukodystrophy Center research team
New insights into Aicardi-Goutières syndrome propel experts to establish qualified outcome measures for clinical drugs.

Families Affected by Leukodystrophy Donate $110,000 to Children's Hospital of Philadelphia

Published on
Feb 1, 2018
in Press Releases
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.