James Walker, PhD
Assistant Professor of Neurology, Harvard Medical School
Associate Member, Broad Institute
Molecular Mechanisms and Therapeutic Strategies for Neurofibromatosis Type 1 (NF1)

The primary interest in our lab is the genetic disorder neurofibromatosis type 1 (NF1). Affecting one in 3,000–4,000 people, NF1 is a chronic multi-system disease with neurological (behavioral, cognitive, tumors) and non-neurological symptoms (vascular, skeletal and skin). Most individuals with NF1 develop benign, but often disfiguring, tumors associated with peripheral nerves called neurofibromas. About 10% of NF1 patients develop malignant peripheral nerve sheath tumors (MPNSTs), which carry a poor prognosis and are often fatal. We utilize a combination of genetic, molecular, and biochemical approaches and both animal and human cell models to improve our mechanistic understanding of NF1 and identify therapeutic targets. Sleep disturbances are a common subjectively reported symptom in NF1 patients but have received little attention to date. We are conducting a comprehensive study to evaluate the sleep characteristics in a large patient cohort  of individuals with NF1 and healthy controls. Our lab also utilizes Drosophila models of other neurological disorders (including Huntington’s Disease, tauopathies, and mitochondrial dysfunction) to gain novel insights into disease mechanisms, identify and test therapeutic targets using neurobehavioral assays including sleep/activity monitoring and cognitive testing.