Contact Information:
Executive Assistant:
Maggy De Tullio
1501 NW 10th Ave.
Miami, Fl. 33136
ph: 305-243-5464
fax: 305.243.2704

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

Dr. Vance is Chair of the Dr. John T. Macdonald Foundation Department of Human Genetics and Director of the Center for Genomic Medicine at the John P. Hussman Institute for Human Genomics. 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 principle investigator) of a NIH Morris K. Udall Parkinson Disease (PD) Research Center of Excellence, now in its 10th 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 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/). 

LINKS: 
Hussman Institute for Human Genomics
Morris K. Udall Parkinson Disease Research Center of Excellence
The Center for Alaska Native Health Research


 

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. Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 270(5237):819-22,1995 Nov 3.
  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, Stajich 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. Wang L, Hauser ER, Shah SH, Seo D, Sivashanmugam P, Exum ST, Gregory SG, Granger CB, Haines JL, Jones CJ, Crossman D, Haynes C, Kraus WE, Freedman NJ, Pericak-Vance MA, Goldschmidt-Clermont PJ, Vance JM. Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease. Ann Hum Genet. 2008 Jul;72(Pt 4):443-53. Epub 2008 Jul 3.
  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. Wang G, van der Walt JM, Mayhew G, Li YJ, Züchner S, Scott WK, Martin ER, Vance JM (2008) Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by over-expression of α-synuclein. American Journal of Human Genetics 82, 283-289. (Cotterman Prize)
  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