Jun Li, MD, PhD

Dr. Jun Li is a tenured Professor and the current Chairman in Department of neurology at Wayne State University School of Medicine. He is also the Scientific Director of Translational Neuroscience Initiative of this school. He relocated to Wayne State University in March 2018 from Vanderbilt University where he served as a tenured Professor of Neurology and the Director of Charcot-Marie-Tooth clinic (inherited peripheral nerve disease clinic) over the past 9 years. Dr. Li has specialized in inherited peripheral nerve diseases and myelin biology for decades. As a physician scientist, Dr. Li was a recipient of the NIH K08 award in 2004. His laboratory is funded by the NIH (R01), Department of Veterans Affairs (merit award) and Muscular Dystrophy Association. With these supports, his laboratory has been highly productive (a total of 76 articles in peer-reviewed journals, he served as the first or last author in 54 of them). He has been invited to give numerous talks nationally and internationally. In 2014, he received the Wolfe Research Prize from the American Neurological Association (ANA). Dr. Li has served as a member of the Scientific Advisory Board for the Muscular Dystrophy Association, Charcot-Marie-Tooth Association and Talia Duff Foundation. He has also served as a member of the scientific committee of Peripheral Nerve Society.

Dr. Jun Li's research has two arms – basic science studies in laboratory and clinical research. The research in our lab focuses on a better understanding of myelin biology and its mechanistic applications in inherited peripheral nervous diseases and therapeutic development. Clinical presentation of patients with Charcot-Marie-Tooth (CMT) diseases typically includes distal muscle weakness, sensory loss, foot deformities and absent deep tendon reflexes. CMT has been classified into several categories based on electrophysiological and pathological changes in the nerves and the array of genetic causes. Currently, there are over 90 specific genes that are linked with different subtypes of CMT. However, over 20% of diagnosed inherited neuropathies still have no known genetic cause. 

For basic studies, we investigate how myelinating Schwann cells interact with axons and how various genetic mutations in inherited peripheral neuropathies alter the molecular signaling between the two types of cells. We hope that these investigations will lead to molecular targets for developing therapeutic interventions.

Currently we are studying several genes and their related CMT disease using multiple in vitro and in vivo models in our lab.  One of these genes is described below:

PMP22: Peripheral Myelin Protein 22 - An autosomal dominant duplication of a 1.4Mb region on chromosome 17.p11.2 containing the PMP22 gene results in Charcot-Marie-Tooth disease type-1A (CMT1A) which affects one out of 5000 people. CMT1A is the most common form of inherited neuropathy. A deletion in the same region of chromosome 17p11.2 causes hereditary neuropathy with liability to pressure palsies (HNPP). Our studies utilize specimens from patients with HNPP, PMP22 knockout mice or primary culture Schwann cells/neurons to understand how the mechanical susceptibility occurs in the HNPP. In addition, we also investigate how over-expression of PMP22 in CMT1A affects myelination and causes axonal loss.