American Society of Human Genetics Honors Dr. Margaret Pericak-Vance with Lifetime Achievement Award
The annual award recognizes the John P. Hussman Institute for Human Genomics director’s substantial and far-reaching scientific contributions to human genetics.
Margaret Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics and the Dr. John T. Macdonald Foundation Professor of Human Genetics at the University of Miami Miller School of Medicine, has been honored with the American Society of Human Genetics’ (ASHG) 2024 Lifetime Achievement Award.
Dr. Pericak-Vance, who received her award at the ASHG’s annual meeting in Denver on Nov. 7, delivered a moving acceptance speech that touched on major personal and professional milestones. She acknowledged friends, family and colleagues for their support throughout her career.
“Thank you to all of my friends and family and collaborators and everyone who has supported my journey. Without you this would not have been possible,” said Dr. Pericak-Vance. “Genetics is a team science, and we need each other to move the field forward.”
Former winners include Nobel Prize winners Joseph L. Goldstein, Michael S. Brown and Kary B. Mullis, as well as Alec Jeffreys, who established DNA fingerprinting, and physician-scientist Dr. Francis S. Collins, to name a few.
Scenes from the ASHG Reception
“A Leader on the Global Stage in Human Genetics”
The annual award recognizes substantial and far-reaching scientific contributions to human genetics. There were two recipients of the coveted award this year, Dr. Pericak-Vance and James Lupski, M.D., Ph.D., D.Sc. (hon), the Cullen Foundation Endowed Chair in Molecular Genetics at Baylor College of Medicine.
“The ASHG Lifetime Achievement Award reflects what we have long known about our leader at the Hussman Institute. Peggy Pericak-Vance is a leader on the global stage in human genetics, with a list of impactful achievements that few in the field can match,” said Miller School Dean Henri Ford, M.D., M.H.A.
Dr. Pericak-Vance and her husband and colleague, Jeffery Vance, M.D., Ph.D., professor in the Dr. John T. Macdonald Foundation Department of Human Genetics at the Miller School, were leading the Center for Human Genetics at Duke University when they got the call from the University of Miami to build a world-class human genetics institute from scratch.
“We like to build things,” Dr. Pericak-Vance said. “And I think we delivered.”
The 2007 “migration” from Duke to UM would be one of the largest academic moves on record, with more than 70 faculty, research and administrative staff accompanying the couple on this life-changing mission.
“Certainly, a lot of what I did at Duke was important in my career, but I think my more recent work at the Hussman Institute—especially in diversity and inclusion—has played a key role and our being part of large, impactful projects like the Alzheimer’s Disease Sequencing Project,” Dr. Pericak-Vance said.
Dr. Pericak-Vance is among today’s most decorated human geneticists. She is an elected member of the National Academy of Medicine. Since Newsweek named her to “The Century Club” in 1997, Dr. Pericak-Vance has been honored many times, including with the international “Louis D” Scientific Prize from the Institut de France’s Academie des Sciences for her Alzheimer’s disease research, the Bengt Winblad Lifetime Achievement Award from the Alzheimer’s Association and the Snow and Ming Tsuang Lifetime Achievement Award from the International Society of Psychiatric Genetics for her lifelong contribution to psychiatric disease research.
She regards the ASHG Lifetime Achievement Award, however, as the pinnacle recognition of her career.
“When I started in the field 30 years ago, I never would have dreamt that I would ever get this award and was always amazed by the people who were singled out for the honor,” Dr. Pericak-Vance said.
“My wife continually amazes me,” Dr. Vance said. “She works hard, juggles our life and work, but always has time to support faculty and young investigators. Her goal has always been for everyone to be successful, so I am thrilled our society has honored her with its highest individual award.”
Expanding the Discipline of Human Genetics
In an ASHG video recognizing Dr. Pericak-Vance, colleague and friend Susan Halloran Blanton, Ph.D., professor in the Dr. John T. Macdonald Foundation Department of Human Genetics at the Miller School, touched on the achievements that culminated in the lifetime achievement award.
Dr. Pericak-Vance led the field of human genetics research and expanded it from mapping genes of rare, Mendelian disorders to common, complex disorders—an evolution that is starting to benefit millions of people around the world. Through innovative collaborations, Dr. Pericak-Vance has contributed to a greater understanding of more than 50 disorders, including ALS, age-related macular degeneration, multiple sclerosis, autism and muscular dystrophies.
“Dr. Pericak-Vance’s accomplishments extend well beyond dementia. In particular, she has had a major impact on our understanding of the genetics of blinding eye disorders, age-related macular degeneration and glaucoma,” said Janey Wiggs, M.D., Ph.D., the vice chair for clinical research in ophthalmology at Harvard Medical School. “She and her team identified the complement factor H as a critical disease-related risk factor for macular degeneration, published in Science. This finding has had profound impact on the field, leading to many investigations of complementary and related pathways in disease pathogenesis.”
Dr. Wiggs pointed out that, with Jonathan Haines, Ph.D., Dr. Pericak-Vance led the analysis team for the NEIGHBORHOOD consortium, which has successfully identified many genetic risk factors for glaucoma. This work has supported important subsequent studies investigating disease mechanisms, using polygenic risk scores for diagnosis and risk stratification and identifying gene targets for novel therapeutics.
“On a personal note, Dr. Pericak-Vance has been a wonderful mentor to me and many other investigators. At an early stage of my career, she taught me the basics of human genetics but, even more importantly, set an incredible example of accomplishment,” Dr. Wiggs said.
Paradigm-shifting APOE Discovery
Dr. Pericak-Vance is best known for her discovery of the APOE4 risk factor for Alzheimer’s disease. APOE4 is the strongest genetic risk factor for Alzheimer’s disease, with approximately 50% of patients being carriers. As the senior author on the two key publications identifying the risk allele APOE4 and the protective allele APOE2 for Alzheimer’s, she proved that it was possible to identify genes underlying common disorders, as proposed by Neil Risch, Ph.D., last year’s ASHG Lifetime Achievement awardee.
“There are so many stellar things to say about Dr. Pericak-Vance and her lifetime of achievements, not only as a scientist/geneticist, but as a humanitarian,” said Dr. Risch. “Dr. Pericak-Vance has been a leader in the field of human genetics for nearly four decades, and the depth and breadth of her contributions are astounding, achieving an enviable h-index of 170.”
Dr. Pericak-Vance was the James Duke Professor of Human Genetics, director of the Center for Human Genetics and chief of the Section of Medical Genetics at Duke University Medical Center. After 25 years at Duke, she moved to the University of Miami to the Hussman Institute’s inaugural director, a position she has maintained for the past 17 years.
“Once austere in terms of human genetics, the University of Miami, under Peggy’s leadership, has become a world-renowned center for human genetics research, with a remarkable level of extramural NIH and other funding to support their program,” Dr. Risch said.
Dr. Pericak-Vance’s humanitarian work championing underrepresented minorities is equally as pioneering and impactful.
“The JJ Vance Foundation is just one example of the things she has done, and it transcends into her science,” Dr. Risch said.
Today’s top National Institutes of Health-funded genetics researcher, Dr. Pericak-Vance continues to make discoveries about human genetics that benefit all of humanity.
Tags: Alzheimer’s Disease Sequencing Project, Dr. Jeffery Vance, Dr. John T. Macdonald Foundation Department of Human Genetics, Dr. Margaret Pericak-Vance, Gene sequencing, genetics, John P. Hussman Institute for Human Genomics