Jeffery Vance, M.D., Ph.D.
- Office: 305-243-6006
- Fax: 305-243-2704
- Clinical Genetics(MD)-Medical Genetics
- American Board of Med Gen PhD Medical Genetics
- American Board of Psych & Neuro-Neurology
- Professor, Dr. John T. Macdonald Foundation Department of Human Genetics
- Professor, Neurology
- Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach.
- Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.
- A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
- Mutations in the mitochondrial GTPase Mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
- List of Publications
Dr. Vance is boarded in both the American Board of Psychiatry and Neurology and the American College of Medical Genetics as a board-certified Medical Geneticist.
Dr. Vance's research has focused on the application of clinical, molecular, and mathematical genetic techniques to identify genes leading to human disease. Dr. Vance's primary areas of expertise and national recognition are in Neurogenetics, especially in Parkinson disease and Charcot-Marie-Tooth Disease. He has also led research in cardiovascular genetics, human genotyping and banking of DNA samples. He has identified five loci for Charcot-Marie-Tooth disease(CMT) (CMT1A, CMT2A, CMT4A, CMT4B, CMT4C), the gene defects for CMT4A (GDAP-1), CMT2A (Mitofusin 2), dominant intermediate (Dynamin-2) CMTB, collaborated on CMT2D/ Distal Spinal Muscular Atrophy Type V gene discovery (Glycyl tRNA Synthetase), spastic paraparesis (REEP1) 31 and gene mutations for three different muscular dystrophies (including α-sarcoglycan), as well as identified the gene defect in the Haw River Syndrome.
Dr. Vance has also been a leader in applying genetics to common medical diseases to identify susceptibility genes. He serves as the Director (primary principal investigator) of the NIH Morris K. Udall Parkinson Disease (PD) Research Center of Excellence, now in its 13th year of funding. He also has ongoing projects in Autism (GABA receptors) and is a principle investigator in the Guilford Genomic Medicine Initiative (GGMI), an ongoing genomic medicine project funded by the Department of Defense.
He is an elected member of the American Neurological Association and the Association of American Physicians, and currently is on the American Association of Neurology Science Committee. He has published over 200 publications including 184 peer-reviewed. He serves as a genetic consultant for the University of Alaska Fairbanks Center for Alaska Native Health Research (COBRE study).