Jeffery M. Vance, M.D., Ph.D.


vance_j_web_resize.jpgDr. Vance is Chair of the Dr. John T. Macdonald Foundation Department of Human Genetics and Director of the Center for Genomic Medicine at the Miami Institute for Human Genetics. Dr. Vance is boarded in both the American Board of Psychiatry and Neurology and the American College of Medical Genetics as a board-certified PhD Medical Geneticist.

Dr. Vance's primary areas of expertise and national recognition are in Neurogenetics, especially in Parkinson disease and Charcot-Marie-Tooth Disease, and also in cardiovascular genetics, human genotyping and banking of DNA samples, and the molecular aspects of the positional cloning of human disease. His research has focused on the application of clinical, molecular, and mathematical genetic techniques to identify genes leading to human disease. 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 principle investigator) of a NIH Morris K. Udall Parkinson Disease (PD) Research Center of Excellence, now in its 8th year of funding. This Udall group has demonstrated that Parkinson Disease (PD) has significant genetic contributions, having identified over half of the confirmed susceptibility genes in PD to date. Jeff has been a leader in developing new methodologies to study complex diseases, such as the application of "genomic convergence" and "iterative association mapping". He is now applying these approaches in cardiovascular genetics, and has a grant from NINDS to identify genes modifying age-at-onset in PD and Alzheimer disease. 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.

In addition, Dr. Vance has been instrumental in defining methodology for large-scale DNA banking and genotyping efforts needed to study the genetics of complex disease. The cores he has developed are models for labs around the world. He currently oversees the MIHG biorepository.

He is an elected member of the American Neurological Association and the Association of American Physicians. He has published over 200 publications including 177 peer-reviewed. He serves as a genetic consultant for the University of Alaska Fairbanks Center for Alaska Native Health Research (COBRE study) (http://www.alaska.edu/canhr/) and the University of West Virginia and Marshal Universities INBRE projects (http://www.wv-inbre.net/)


Contact Information
Executive Assistant: Maggy De Tullio
Miami Institute for Human Genomics
1120 NW 14 St.
Miami, Fl. 33136
Office: 305.243.5464
Fax: 305.243.2396


Selected Publications
  1. VANCE JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung W-Y, Roses AD, Barker D, Pericak-Vance MA. Linkage of Charcot-Marie Tooth neuropathy type 1a to Chromosome 17. Experimental Neurology 104(2): 186-189, 1989
  2. Burke JR, Wingfield MS, Lewis KE, Roses AD, Lee JE, Hulette C, Pericak-Vance MA, VANCE JM. The Haw River syndrome: Dentatorubral-pallidoluysian atrophy (DRPLA) in an African-American family. Nature Genetics 7:521-524, 1994.
  3. Baxter RV, Othmane KB, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Hamida MB, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, VANCE JM. Mutations in ganglioside-induced differentiation-associated protein-1 (GDAP1) are responsible for Charcot-Marie-Tooth Disease type 4A/8q13. Nat Genet, 30(1): 21-22, 2002.
  4. Hauser MA, Li Y-J, Takeuchi S, Walters R, Noureddine M, Maready M, Darden T, Hulette C, Martin E, Hauser E, Xu H, Schmechel D, Stenger JE, Dietrich F, VANCE JM. Genomic Convergence: Identifying candidate genes for Parkinson disease by combining serial analysis of gene expression (SAGE) and genetic linkage. Hum Mol Genet, 12(6):671-676, 2003.
  5. Li YJ, Oliveira SA, Xu P, Martin ER, Stenger JE, Scherzer CR, Hauser MA, Scott WK, Small GW, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Goetz CG, Mastaglia F, Middleton LT, Roses AD, Saunders AM, Schmechel DE, Gullans SR, Haines JL, Gilbert JR, VANCE JM, Pericak-Vance MA. Glutathione S-Transferase Omega 1 modifies age-at-onset of Alzheimer Disease and Parkinson Disease. Hum Mol Genet. 12(24):3259-67, 2003.
  6. Oliveira SA, Scott WK, Martin ER, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Ondo WG, Allen FH, Jr., Scott BL, Goetz CG, Small GW, Mastaglia, F, Staijich JM, Zhang F, Booze MW, Winn MP, Middleton LT, Haines JL, Pericak-Vance MA, VANCE JM. Parkin mutations and susceptibility alleles in late-onset Parkinson Disease. Annals of Neurology 53(5):624-629, 2003.
  7. van der Walt JM, Noureddine MA, Kittappa R, Hauser MA, Scott WK, Mckay R, Zhang F, Stajich JM, Fujiwara K, Hauser MA, Scott BL, Pericak-Vance MA, VANCE JM, Martin ER. Fibroblast Growth Factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. American Journal of Human Genetics, 74(6): 1121-7, 2004.
  8. Züchner S, Mersiyanov IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Nelis E, Dadali EL, Zappia M, Patitucci A, Parman Y, JSenderek J, De Jonghe P, Pericak-Vance MA, Quattrone A, Battologlu E, Polyakov AV, Timmerman V, Schröder JM, VANCE JM. Mutations in the mitochondrial GTPase Mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nature Genetics, 36(5): 449-51, 2004.
  9. Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, VANCE JM. Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. Nature Genetics. 37(3): 289-94, 2005.
  10. Hauser MA, Li Y-J, Xu H, Stenger JE, Noureddine MA, Shao Y, Gullans SR, Schertzer CR, Jensen RV, McLaurin AC, Scott BL, Jewett RM, Hulette CM, Schmechel DE, VANCE JM. Expression Profiling of Substantia Nigra in Parkinson, PSP, and FTDP-17. Archives of Neurology, 62(6): 917-21, 2005.
  11. Winn MP, Conlon PJ, Lynn KL, Farrington MK, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, VANCE JM, (corresponding author) Rosenberg PB. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science, 308(95729): 1801-4, 2005.
  12. Oliveira S, Li Y, Noureddine M, Züchner S, Qin X, Pericak-Vance MA, VANCE JM. Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. American Journal of Human Genetics, 77(2):252-64, 2005.
  13. Züchner S, De Jonghe P, Jordanova A, Claeys KG, Guerguelcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, VANCE JM. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Annals of Neurology, 59(2):276-281, 2006.
  14. Züchner S, Wang G, Tran-Viet K-N, Nance MA, Gaskell PC, VANCE JM, Ashley-Koch AE, Pericka-Vance MA. Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31. Am J Hum Genet, 2006 Aug;79 (2):365-9. Epub 2006 May 26.
  15. Li YJ, Scott WK, Zhang L, Lin PI, Oliveira SA, Skelly T, Doraiswamy MP, Welsh-Bohmer KA, Martin ER, Haines JL, Pericak-Vance MA, VANCE JM. Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases. Epub 2005 Neurobiological Aging, (8):1087-93, 2006.
  16. Lin PI, VANCE JM, Pericak-Vance MA, Martin ER. No gene is an island: the flip-flop phenomenon. AJHG 80:531-538, 2007.
  17. Wang L, Hauser ER, Shah SH, Pericak-Vance MA, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJH, Crossman D, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ and VANCE JM. Peak-wide mapping on chromosome 3q13 identifies the Kalirin gene as a novel candidate gene for coronary artery disease. Am J Hum Genet. 2007 Apr;80(4):650-63