Margaret Pericak-Vance, Ph.D.


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Dr. Pericak-Vance is the Dr. John T. Macdonald Foundation Professor of Human Genomics and Director of the Miami Institute for Human Genomics. She is a founding fellow of the American College of Medical Genetics and a board-certified PhD medical geneticist. Dr. Pericak-Vance is a global leader in the genetics of common diseases.

She excels at the integration of genomic and statistical technologies and their application to diseases of public health importance in general, and to neurologic diseases in particular. Her more than 400 peer-reviewed papers demonstrate outstanding productivity and establish important milestones in diseases that include tuberous sclerosis, the muscular dystrophies, amyotrophic lateral sclerosis (ALS), Parkinson disease (PD), multiple sclerosis (MS), autism, and Alzheimer disease (AD).

She pioneered the use of novel disease gene mapping, leading to the identification of apolipoprotein E (APOE) as the major susceptibility gene for AD. Her recent accomplishments include the 2007 identification of the IL7R risk gene for multiple sclerosis, the 2005 discovery of the CFH gene that determines an individual's risk for developing age-related macular degeneration, and the identification of a gene contributing to the expression of age-at-onset in AD and PD in 2003.

Her greatest contribution has been her leadership in the application of methodological innovations capitalizing on the Human Genome Project that affect not only the neurological sciences but all of medicine. Dr. Pericak-Vance is internationally recognized by her peers as a leader in human genetics research. In 1997, Newsweek magazine named Dr. Pericak-Vance to the "Century Club: 100 People to Watch as We Move to the Next Millennium." In 2001, Dr. Pericak-Vance and Dr. Jeffery M. Vance received the McKnight Memory and Brain Disorders Award for "Studies of Mitochondrial Haplogroups in Alzheimer Disease Families." Also in 2001, Dr. Pericak-Vance received the international "Louis D" Scientific Prize from the Institut de France's Academie des Sciences for her AD research. She was elected to the Institute of Medicine in 2004. Dr. Pericak-Vance holds numerous research grants through the National Institutes of Health that support her research into the genetics of complex disease.


Contact Information

Executive Assistant: Lourdes Landa
Miami Institute for Human Genomics
1120 NW 14 St.
Miami, Fl. 33136
Office: 305.243.5386
Fax: 305.243.2396


Selected Publications

1. Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, and PERICAK-VANCE MA. Gene dose of Apolipoprotein E Type 4 allele and the risk of Alzheimer disease in late onset families. Science 261:921-923, 1993.

2. Li YJ, Scott WK, Hedges DJ, Zhang F, Gaskell PC, Nance MA, Watts RL, Hubble JP, Koller WC, Pahwa R, Stern MB, Hiner BC, Jankovic J, Allen FA, Jr, Goetz CG, Mastaglia F, Stajich JM, Gibson RA, Middleton LT, Saunders AM, Scott BL, Small GW, Nicodemus KK, Reed AD, Schmechel DE, Welsh-Bohmer KA, Conneally PM, Roses AD, Gilbert JR Vance JM, Haines JL, PERICAK-VANCE MA. Age-at-onset in two common neurodegenerative diseases is genetically controlled. Am J Hum Genet 70:985-993, 2002.

3. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, PERICAK-VANCE MA. Complement Factor H variant increases the risk of age-related macular degeneration. Science 5:308:419-21, 2005.

4. Ma DQ, Whitehead PL, Menold MM, Martin ER, Ashley-Koch AE, Mei H, Ritchie MD, DeLong MR, Abramson RK, Wright HH, Cuccaro ML, Hussman JP, Gilbert JR, PERICAK-VANCE MA. Identification of significant association and gene-gene interaction on GABA receptor subunit genes in autism. Am J Hum Genet 2005 Sep;77(3):377-88.

5. Zuchner S, Wang G, Tran-Viet KN, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, PERICAK-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.

6. Haines JL, PERICAK-VANCE MA. Rapid dissection of the genetic risk of age-related macular degeneration: achieving the promise of the genomic era. JAMA. 2007 Jan 24;297(4):401-2.

7. Ma DQ, Cuccaro ML, Jaworski JM, Haynes CS, Stephan DA, Parod J, Abramson RK, Wright HH, Gilbert JR, Haines JL, PERICAK-VANCE MA. Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14. Mol Psychiatry. 2007 Apr;12(4):376-84.

8. Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, Caillier SJ, Ban M, Goris A, Barcellos LF, Lincoln R, McCauley JL, Sawcer SJ, Compston DA, Dubois B, Hauser SL, Garcia-Blanco MA, PERICAK-VANCE MA, Haines JL. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet. 2007 Sep;39(9):1083-91.

9. The International Multiple Sclerosis Genetics Consortium. Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study. N Engl J Med. 2007 Aug 30;357(9):851-62.