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Margaret Pericak-Vance

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Margaret A. Pericak-Vance
Born
Margaret Ann Pericak

(1951-06-28) June 28, 1951 (age 73)
NationalityAmerican
EducationWells College
Indiana University School of Medicine Department of Medical and Molecular Genetics
University of North Carolina at Chapel Hill Department of Biostatistics
Known forResearch on the genetics of Alzheimer's disease
SpouseJeffery Marvin Vance
Children3
AwardsGrand Prix scientifique de la Fondation Louis D. (2001)
National Academy of Medicine (2003)
Alzheimer's Association's Bengt Winblad Lifetime Achievement Award (2011)
Ming Tsuang Lifetime Achievement Award from the International Society of Psychiatric Genetics (2014)
Lifetime Achievement Award from the American Society of Human Genetics (2024)
Scientific career
FieldsMedical genetics
InstitutionsDuke University Medical Center
University of Miami Miller School of Medicine
Thesis Genetic linkage studies in Huntington's disease  (1978)
Doctoral advisorP. Michael Conneally

Post Doctoral Advisor: Robert C. Elston

Margaret Ann Pericak-Vance (born June 28, 1951)[1] is an American human geneticist who is the Dr. John T. Macdonald Foundation Professor of Human Genetics and director of the John P. Hussman Institute for Human Genomics at the University of Miami. She is known for her research on the genetics of common human diseases. This research has led to a number of findings of genes that increase the risk of certain diseases, such as apolipoprotein E and Alzheimer's disease, interleukin-7 receptor and multiple sclerosis, and complement factor H and macular degeneration.[2]

Education and career

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A native of Buffalo, New York, Pericak-Vance attended Wells College, graduating in 1973 with a bachelor's degree in biology.[3] She went on to earn her Ph.D. in 1978 from Indiana University School of Medicine: Department of Medical and Molecular Genetics, where she studied under P. Michael Conneally.[4][5] She did a post-doctoral fellowship at the University of North Carolina Chapel Hill under Robert C. Elston. She subsequently served on the faculty of Duke University, where she eventually became director of the Center for Human Genetics, James B. Duke Professor of Medicine, and Chief of the Section of Medical Genetics at Duke University Medical Center.

In January 2007, Pericak-Vance left Duke to help launch the Miami Institute for Human Genomics, which is now the John P. Hussman Institute for Human Genomics at the University of Miami's Miller School of Medicine.[6][7]

Scientific Contributions

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Alzheimer's Disease Research

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In 1993, Pericak-Vance and her colleagues identified the APOE-4 allele as a significant genetic risk factor for late-onset Alzheimer's disease.[8] Their research demonstrated that individuals carrying this allele had an increased likelihood of developing the disease, making it the most significant genetic risk factor beyond age. This discovery marked the first time a gene variant was linked to a common and serious disorder, influencing both Alzheimer's research and the broader field of human genetics. The study remains influential, and is still cited frequently in Alzheimer's research three decades after its publication. As of 2023, the study is the most-cited original research paper in Alzheimer's studies of the past 50 years.

In 1994, Pericak-Vance and her team demonstrated that the APOE-e2 allele had a protective effect against Alzheimer's disease.[9] This finding, also the first of its kind in medicine, was the earliest finding to show that different alleles of the same gene could have opposing effects on disease susceptibility. These discoveries contributed to a paradigm shift in the understanding of genetic risk and protection in complex diseases and reinforced the significance of genetic research in neurology and medicine.

Pericak-Vance led the 2018 paper "Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations" that showed that different ancestral backgrounds could moderate risk emphasizing the need for a global approach to understanding of the entire genetic landscape of Alzheimer’s disease.[10]

Honors and awards

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Pericak-Vance is a founding fellow of the American College of Medical Genetics.[2] She was recognized in 1997 by Popular Science Magazine for The Best of What's New in Science and Technology for the Gene Identified for Alzheimer's Disease. Also that year, Newsweek Magazine named her to "The Century Club: 100 People to Watch as We Move to the Next Millennium".[11] In 2001, she received the Grand Prix scientifique de la Fondation Louis D. from the Institut de France for her research on Alzheimer's disease.[12] She was inducted into the Western New York Women's Hall of Fame (2002)[13] and received Wells College Distinguished Alumnae Award (2003)[14] She was elected to the National Academy of Medicine in 2003. She received the Hauptman-Woodward pioneer of Science award in 2004. Dr. Pericak-Vance received the Alzheimer's Association's Bengt Winblad lifetime achievement award in 2011, and was named a fellow of the American Association for the Advancement of Science in 2012.[2] In 2014, she received the Ming Tsuang Lifetime Achievement Award from the International Society of Psychiatric Genetics.[15] She was Awarded the Plaza Health Network Foundation's Women of Distinction & Caring Award in 2019. In 2023, she was recognized by Research.com with the Best Scientist Award as well as the Best Female Scientist Award, and in 2024 with the Genetics in the United States Leader Award. In 2024, she was awarded the Lifetime Achievement Award by the American Society of Human Genetics which recognizes substantial and far-reaching scientific contributions to human genetics.[16]

Personal life

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Pericak-Vance is married to Jeffery M. Vance, whom she met when they were both students at Indiana University School of Medicine.[17] Together they had two sons and one daughter. Their son, Jeffery Joseph Vance, died in 1998 from thrombotic storm.[18]

References

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  1. ^ "Pericak-Vance, Margaret Ann". Library of Congress Name Authority File. Retrieved 2019-07-12.
  2. ^ a b c "Margaret Pericak-Vance, Ph.D." University of Miami Health System. Retrieved 2019-07-12. (archived version)
  3. ^ "Renowned Geneticist Margaret Pericak-Vance to Speak at Commencement". Wells College (Press release). 2013-05-03. Retrieved 2019-07-12.
  4. ^ "Margaret Ann Pericak-Vance, PhD". Duke University. Retrieved 2019-07-12.
  5. ^ Pierce, Charlie (2000). Hard to Forget: An Alzheimer's Story. Random House. ISBN 0-679-45291-5. Retrieved 2019-07-12.
  6. ^ "Two of the World's Top Geneticists Are Coming to Miami". www.businesswire.com (Press release). 2006-10-31. Retrieved 2019-07-12.
  7. ^ Walker, Blair S. (Fall 2007). "Gene Hunt". University of Miami Medicine. Retrieved 2019-07-12.
  8. ^ Corder, E. H.; Saunders, A. M.; Strittmatter, W. J.; Schmechel, D. E.; Gaskell, P. C.; Small, G. W.; Roses, A. D.; Haines, J. L.; Pericak-Vance, M. A. (1993-08-13). "Gene Dose of Apolipoprotein E Type 4 Allele and the Risk of Alzheimer's Disease in Late Onset Families". Science. 261 (5123): 921–923. Bibcode:1993Sci...261..921C. doi:10.1126/science.8346443. PMID 8346443.
  9. ^ Corder, E. H.; Saunders, A. M.; Risch, N. J.; Strittmatter, W. J.; Schmechel, D. E.; Gaskell, P. C.; Rimmler, J. B.; Locke, P. A.; Conneally, P. M.; Schmader, K. E.; Small, G. W.; Roses, A. D.; Haines, J. L.; Pericak-Vance, M. A. (June 1994). "Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease". Nature Genetics. 7 (2): 180–184. doi:10.1038/ng0694-180. ISSN 1546-1718. PMID 7920638.
  10. ^ Rajabli, Farid; Feliciano, Briseida E.; Celis, Katrina; Hamilton-Nelson, Kara L.; Whitehead, Patrice L.; Adams, Larry D.; Bussies, Parker L.; Manrique, Clara P.; Rodriguez, Alejandra; Rodriguez, Vanessa; Starks, Takiyah; Byfield, Grace E.; Lopez, Carolina B. Sierra; McCauley, Jacob L.; Acosta, Heriberto (2018-12-05). "Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations". PLOS Genetics. 14 (12): e1007791. doi:10.1371/journal.pgen.1007791. ISSN 1553-7404. PMC 6281216. PMID 30517106.
  11. ^ "The Century Club". Newsweek. 20 April 1997. Retrieved 15 July 2020.
  12. ^ "Alzheimer's Research Nets Award for Pericak-Vance". corporate.dukehealth.org (Press release). Duke Health. 2001-08-03. Retrieved 2019-07-12.
  13. ^ Buckman, Thomas (2002). "SCIENTIFIC PIONEERS TO BE HONORED FOR WORKS". The Buffalo News. Retrieved 15 July 2020.
  14. ^ "Association of Alumnae and Alumni Award". Wells. Retrieved 15 July 2020.
  15. ^ "ISPG Honorific Awards". International Society of Psychiatric Genetics. Retrieved 2019-07-12.
  16. ^ Hilton, Lisette (2024-11-14). "American Society of Human Genetics Honors Dr. Margaret Pericak-Vance with Lifetime Achievement Award". InventUM. Retrieved 2025-02-22.
  17. ^ Edelstein, Adam (11 November 2020). "Solving the Mystery of Alzheimer's – University of Miami Medicine Magazine". Retrieved 2024-03-18.
  18. ^ "Thrombotic Storm - a Rare, but Serious Unknown Blood Clot Disorder". Blood Clots. 2013-05-08. Retrieved 2024-03-18.
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