SYNOPSIS
Leukodystrophies remain a diagnostic challenge for practitioners and families. Next generation sequencing (NGS) offers exciting opportunities to expand our understanding of disease phenotypes and to explore pathophysiologic mechanisms, based on the molecular cause of abnormalities in central nervous system white matter. The diagnostic odyssey and its implications are discussed, from the perspective of an Australian family. Additionally, an update is provided on the contributions of NGS to the description of novel leukodystrophies and their treatments in this ever expanding field.
SPEAKER
Dr Adeline Vanderver, MD, is the Director of the Myelin Disorders Clinic at Children’s National Health System Washington, DC. She is an international leader in the study of leukodystrophies, and her research programme is focussed on Aicardi Goutières syndrome, Vanishing White Matter disease, TUBB4A-related hypomyelination and the use of next generation sequencing for undiagnosed leukodystrophies. Dr. Vanderver is an Associate Professor in the Departments of Neurology and Pediatrics, and Integrative Systems Biology at George Washington University Medical Center. She also works with the National Human Genome Research Institute at the National Institutes of Health. She even appeared on the Australian Story “Cracking The Code” episode on the ABC.