# Margaret Pericak-Vance

Margaret Ann Pericak-Vance (born June 28, 1951) 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, IL7R and multiple sclerosis, and complement factor H and macular degeneration.

## Education and career

A native of Buffalo, New York, Pericak-Vance attended Wells College, graduating in 1973 with a bachelor's degree in biology. 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. 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.

## Scientific Contributions
### Alzheimer's Disease Research

In 1993, Pericak-Vance and her colleagues identified the APOE-4 allele as a significant genetic risk factor for late-onset Alzheimer's disease. 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 highly influential, cited extensively in Alzheimer's research three decades after its publication. As of 2023, the study remained 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. 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.

### Contributions to Genetic Diversity in Alzheimer's Research

Pericak-Vance has been a leading advocate for increasing genetic diversity in Alzheimer’s disease research, recognizing that the underrepresentation of non-European populations in genetic studies contributes to health disparities. For over two decades, she has focused on studying genetic influences on Alzheimer's disease in African American and Hispanic/Latino populations, with the goal of improving the generalizability of genetic findings and advancing health equity.
Pericak-Vance identified the limitations of genetic studies that primarily involved individuals of European ancestry. In response, she and her colleagues initiated research efforts specifically targeting diverse populations. These efforts led to significant findings, including the identification of a deletion in the ABCA7 gene, which was shown to be an ancestry-specific variant associated with increased Alzheimer’s risk in individuals of African ancestry. In 2018, her team demonstrated that the risk associated with the APOE-e4 allele varies depending on the ancestral origin of the chromosome on which it is inherited. They found that individuals of African ancestry carrying APOE-e4 have a lower risk for Alzheimer’s compared to those who inherit the allele from a European ancestry background. This finding underscored the importance of considering genetic diversity in disease risk assessments and therapeutic research.
In 2019, Pericak-Vance co-led the largest genome-wide association study of Alzheimer’s disease at the time, analyzing genetic data from over 94,000 individuals. This international collaboration identified five new risk genes for Alzheimer's disease and confirmed 25 previously known risk loci, further expanding the understanding of the genetic factors contributing to the disease.

## Honors and awards

Pericak-Vance is a founding fellow of the American College of Medical Genetics. 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 "The Century Club: 100 People to Watch as We Move to the Next Millennium". 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. She was inducted into the Western New York Women's Hall of Fame (2002) and received Wells College Distinguished Alumnae Award (2003) 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. In 2014, she received the Ming Tsuang Lifetime Achievement Award from the International Society of Psychiatric Genetics. 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.

## Personal life

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