Mary-Claire King: When Science is Personal
The genesis of Dr. King’s life’s work in the field of genetics
For internationally renowned geneticist Mary-Claire King, PhD, science is personal.
Dr. King’s father was 60 when she was born and “from his early 60s, he was ill with what we ultimately realized were late-onset effects of the 1918 influenza pandemic, a severe Parkinson-like syndrome,” she says.
Dr. King’s experience as a child tending to a sick parent helped spur her fascination with genes and their impact on complex human diseases, such as breast and ovarian cancer, inherited deafness, HIV, schizophrenia, and more. Much of her research was focused on answering one particularly critical question: Do families inherit certain diseases as a result of genetic mutations? The answer revolutionized cancer medicine.
Saving Tens of Thousands of Lives
Dr. King was the first scientist to show that breast cancer is inherited by a gene mutation she named BRCA1—a discovery the Gairdner Foundation would later describe as having “transformed diagnosis, drug development, and treatment of inherited breast and ovarian cancer.”
The practical application of Dr. King’s breakthrough has been astounding. In her own words, Dr. King’s work has allowed for “inexpensive, complete, accurate ways of finding and characterizing every mutation in every known breast cancer gene—now there are about 20—and ensuring testing is available to women in general… I’ve been able to keep going and it’s been enormously successful; we’re saving tens of thousands of lives.”
In addition to her cancer research, Dr. King lent her deep knowledge of DNA sequencing to various human rights investigations. Between 1976 and 1983, thousands of Argentine children and pregnant women were abducted by their government and given to elite families. Dr. King used mitochondrial DNA to find the grandchildren of the Abuelas (the parents of the abducted children) and reunite them.
Dr. King has also worked to pinpoint the genetic bases for genetic disorders in children, schizophrenia, and human evolution—including demonstrating that humans and chimpanzees are 99% identical in their protein-coding sequences.
What’s Next?
Still actively engaged in research, Dr. King and her team are now working to reveal familial genetic mutations not detectable by previous technologies. Specifically, Dr. King has developed a new approach using genomic excision and sequencing to identify smaller mutations—a new method she has named SMRT-CATCH.
It’s no exaggeration to say that countless lives have benefited from Dr. King’s dedication and perseverance. And no matter where she decides to next turn her focus, one thing is certain: Dr. King will continue inspiring future generations.
Career Awards & Recognition
Dr. King’s research has led to much recognition and acclaim, some of which include:
Lasker Special Achievement Award for Medical Research
United States National Medal of Science
Gairdner Award
Paul Ehrlich and Ludwig Darmstaedter Prize
American Society of Clinical Oncology Basic Science Award
American Cancer Society Medal of Honor for Clinical Research
Weizmann Institute Award for Women and Science
Gruber Prize in Genetics
Pearl Meister Greengard Prize
Heineken Prize for Medicine
Clowes Award for Basic Research
University of California Medal
From 1976-1995, Dr. King was a professor of genetics and epidemiology at UC Berkeley before becoming an American Cancer Society research professor at the University of Washington. She has been elected to the National Academy of Sciences, the American Academy of Arts and Sciences, the Institute of Medicine, the American Philosophical Society, and the French Academy of Sciences (as a foreign member). She’s also served on the Advisory Committee to the Director of NIH, the National Commission on Breast Cancer of the President’s Cancer Panel, multiple NIH councils, and was once president of the American Society of Human Genetics.
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