Cancer genetics pioneer, Bert Vogelstein, awarded the Breakthrough Prize in Life Sciences

Published on February 21, 2013 at 5:39 AM · No Comments

Bert Vogelstein, M.D., co-director of the Ludwig Center at Johns Hopkins and a Howard Hughes Medical Institute investigator has been awarded the Breakthrough Prize in Life Sciences.  He was selected for his landmark work in cancer genomics and tumor suppressor genes.

Vogelstein is among 11 inaugural winners who will receive $3 million each for their groundbreaking research in the life sciences. The Breakthrough Prize has been established by technology entrepreneur Yuri Milner, Google founder Sergey Brin, 23andMe co founder Anne Wojcicki, Facebook founder and CEO Mark Zuckerberg and his wife Priscilla Chan. A foundation created to administer the prize will be chaired by Art Levinson, chairman of the Board of Apple and Chairman and former CEO of Genentech.

“This is a tremendous honor.  An honor I share with my fellow investigators who have worked with me so tirelessly over the last three decades to pinpoint molecular genetic causes of cancer,” says Vogelstein, the Clayton Professor of Oncology at the Johns Hopkins Kimmel Cancer Center.

Vogelstein began his career in 1974 studying pediatrics at Johns Hopkins after graduating from its School of Medicine.  Seeing young children suffering from cancer spurred his interest in cancer research.  He spent two years at the National Cancer Institute before returning to Johns Hopkins in 1978 to direct the cancer center’s molecular genetics laboratory.

If asked to summarize his discoveries of the last 30 years, Vogelstein would say, “Cancer is, in essence, a genetic disease.”  But more than 20 years ago when Vogelstein first cracked open the Pandora’s Box that is cancer, revealing first one and then a series of genetic mistakes responsible for colon cancer, it was a foreign concept.  Today, his discoveries continue to lead his lab and others around the world in developing genetic tests, diagnostics and therapies for cancer.

In 1989, Vogelstein’s identification of p53 gene mutations in colon cancer began a tide of research linking alterations in the gene to other cancers.  It is now known as the most common gene mutation in all cancers.  Vogelstein’s lab then discovered a series of other mutations that lined up like dominos in a cascade of mutations ending in p53.  The difficulty of these discoveries is likened to finding one typographical error within 20 volumes of an encyclopedia, and then figuring out how it got there.

“Dr. Vogelstein’s work in colon cancer, and the application of molecular biology to the study of human disease, is the framework for much of modern cancer research,” says William G. Nelson, M.D., Ph.D., director of the Johns Hopkins Kimmel Cancer Center. As a result, Vogelstein was ranked in 2003 as the most highly-cited scientist in the world during the previous 20 years, according to the Institute for Scientific Information in Philadelphia.

Vogelstein and his colleagues created gene tests for some rare forms of hereditary colon cancers, and later, created a stool test to screen for genes linked to more common, sporadic colon cancers.

More recently, Vogelstein and his colleagues were the first to create genomic maps of cancer – starting with breast and colon cancers.  They’ve mapped scores of other cancer genomes, leading to the discovery of mutations in the IDH1 gene, one of the most prevalent in brain cancer.

With new, faster computing tools to sequence cancer DNA, Vogelstein’s team completed 88 of the first 100 whole exomic sequences of human cancers.  These detailed maps create guides by which scientists can pinpoint characteristics of each person’s cancer and tailor therapies and diagnostics to guide treatment, a growing movement toward “individualized” or “personalized” medicine.

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