Introduction

Idiopathic diseases (particularly neuro-degenerative and oncologic) continue to make diagnosis and treatment difficult due to their undefined nature. Many of these diseases have a heritable component, and for some, it is the primary underlying etiology. With Whole Exome Sequence from a variety of patients, the identification of a large set of putative disease-causing variants is feasible. The remaining issue is to definitively identify the small set of variants that are truly causative in these polygenic conditions. We utilize new precision medicine pipelines to functionally test combinations of variants in cellular systems.

In the neurosciences, axon degeneration and regeneration are the cellular consequences of debilitating neuropathies and traumatic injuries to the brain and spinal cord.  We and collaborators seek to understand the biological pathway that controls degeneration and regeneration in these important cells.