Leukodystrophies | CHOP Research Institute
 

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.

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.

Fostering the careers of the next generation of scientists who seek to discover causes and potential treatments for the class of disorders known as neurodevelopmental disabilities.

Dr. Shults works to develop statistical methods for longitudinal data that include semi-parametric approaches to account for subject/cluster level associations and maximum likelihood-based approaches for simulation and analysis of discrete longitudinal outcomes that may have overdispersion.

E-mail:
shultsj [at] chop.edu

Using translational approaches that encompass genomic studies, biomarker development, disease modeling, natural history studies, and clinical trials, Dr. Vanderver seeks to improve the quality of life and lifespan of individuals living with leukodystrophies or heritable disorder of myelin. She leads the Leukodystrophy Center of Excellence at Children's Hospital of Philadelphia.

E-mail:
vandervera [at] chop.edu
Published on
May 31, 2018
One year after Drew's leukodystrophy diagnosis at CHOP, the Norton family is having an "amazing run."