Research aims 

Leukodystrophies are a group of genetic diseases that affect the structural components of the white matter or myelin, in the central nervous system. Historically, about 50% of individuals with a leukodystrophy receive a diagnosis of unsolved and no genetic aetiology is found. These diagnostic challenges represent an urgent, unresolved gap in knowledge and disease characterization. Our previous work and that of our collaborators using Next Generation Sequencing (NGS), which looks at the entire exome or genome, has rapidly improved diagnostic rates in these individuals to about 80%.

My research will focus on how best to approach these remaining 20% of unsolved cases, to continue to evaluate the utility of NGS for leukodystrophies. To do this, I will be curating genetic variants from a cohort of over 100 unresolved leukodystrophies identified by family trio whole genome sequencing. This research will include developing a functional understanding of the significance of genetic defects and will aid in prioritizing the development of potential therapeutic strategies for these individuals.


Title: An exploration of unsolved central nervous system white matter disorders with whole genome sequencing

Cas Simons, PhD, Institute for Molecular Biosciences, The University of Queensland & Adeline Vanderver, MD, Associate Professor of Neurology and Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics, Children’s Hospital of Philadelphia and the University of Pennsylvania

Previous experience

While completing my Bachelor’s of Science in Biology and playing Water Polo at the George Washington University, I began working in the Department of Neurology at Children's National Health System in Washington, DC. After graduating, I worked as a Clinical Research Coordinator in the Neurogenetics division at Children’s National where I developed my interests in the field of pediatric neurology, specifically in Leukodystrophies and other neurogenetic conditions.