Dr. Jun Li
Dr. Li is a tenured Professor of Neurology at Vanderbilt University School of Medicine. He is sub-specialized in Neuromuscular Diseases with a special interest in Charcot-Marie-Tooth (CMT) diseases and myelin biology, including pathogenesis and therapeutic development of CMT4J. He directs the Vanderbilt CMT Clinic, which has been recognized by the CMT Association as a CMT Center of Excellence. This clinic is a part of Inherited Neuropathy Consortium.
Dr. Li has been a member of the Scientific Advisory Board of the Muscular Dystrophy Association and the study sections of the National Institutes of Health. He has been a reviewer for a variety of journals in the field of peripheral nerve and myelin biology. He has been invited to give numerous talks at universities and domestic/international meetings.
Dr. Li is a past recipient of NIH K08 award. Since 2005, he has been elected as the Best Doctors in America. In 2014, he received the Wolfe Research Prize from American Neurological Association. Dr. Li’s laboratory has been funded by NIH, Department of Veteran’s Affairs, and Muscular Dystrophy Association.
Dr. Steven J. Gray
Dr. Steven J. Gray is an Assistant Professor in the Dept. of Ophthalmology, U. of N. Carolina at Chapel Hill. He is also an investigator in the UNC Gene Therapy Center and Carolina Institute for Developmental Disabilities. He was previously a Post Doc at UNC and before that had undertaken a PhD in Molecular Biology, at Vanderbilt University. His core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system or eye.
His major focus is in AAV vector development to develop vector tailored to serve specific clinical and research applications involving the nervous system. These include the development of novel AAV capsids amenable to widespread CNS gene transfer or specialized ocular gene transfer. As AAV-based platform gene transfer technologies have been developed to achieve global, efficient, and in some cases cell-type specific CNS gene delivery, his research focus has also included preclinical studies to apply these reagents toward the development of treatments for neurological diseases.
Currently these include preclinical studies for Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Krabbe, AGU, and Batten Disease, and have expanded into human clinical studies to test a gene therapy approach for GAN.
He has published over 50 peer reviewed papers and has 3 pending patents. His research is funded by NIH and other research foundations.
Dr. Cathleen Lutz
Dr. Lutz is the Director of the Rare and Orphan Disease Center at The Jackson Laboratory. She holds a PhD in Biochemistry with a Master’s degree in Business Administration. She oversees both the Mouse Repository and the In Vivo Pharmacology program at The Jackson Laboratory in Bar Harbor, Maine.
Dr. Lutz and her team work collaboratively with numerous disease foundations to ensure the preclinical mouse models are well characterized and available to the scientific community. In addition to genetically engineering new models for preclinical discovery, Dr. Lutz and her team perform in vivo pharmacology and efficacy experiments for new potential therapeutics.
Dr. Lutz is the Co-Principal Investigator to the new NIH grant at The Jackson Laboratory, Resource for Research of Peripheral Neuropathy, which serves to accelerate the creation, distribution and use of high-priority mouse models for CMT research. She is joined in this effort with her colleagues Professor Robert Burgess, PhD and Research Scientist Kevin Seburn, Ph.D.
Dr. Guy Lenk
Dr. Guy Lenk is an Assistant Research Scientist in the Department of Human Genetics, at the University of Michigan. Dr. Lenk has been working on the FIG4 mutation involved with CMT4J for over ten years. Lenk and coworkers have developed more than ten different mouse models of the FIG4 mutation. Several of these models serve as the basis of phenotype and natural history information for current CMT4J research at The Jackson Laboratory. Lenk has written or co-written 17 scientific publications related to FIG4 and associated rare diseases. Dr. Lenk has also identified two other FIG4 disorders caused by the FIG4 mutation: Yunis Varon Syndrome and familial epilepsy with polymicrogyria.
Scientific Advisory Committee
Jun Li, MD, PhD – Vanderbilt University – Director, Scientific Advisory Committee (see bio above)
Robert Burgess, PhD — The Jackson Laboratory
Dr. Burgess’ research focuses on molecular mechanisms involved in peripheral neuromuscular diseases. Dr. Burgess is the recipient of an NIH grant focusing on creating and using mouse models for Charcot Marie Tooth research.
Thomas Eugene Lloyd, MD, PhD
Dr. Lloyd is associate professor of Neurology at Johns Hopkins University. Clinically, Dr. Lloyd’s practice focuses on neuromuscular diseases, such as ALS and CMT. His research focuses on understanding the mechanisms of motor neuron degeneration.
Cynthia Tifft, MD, PhD
Dr. Tifft is deputy clinical director of the National Human Genome Research Institute’s Medical Genetics Branch at the National Institutes of Health (NIH) and the Director – Pediatric Undiagnosed Disease Program, at NIH.