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Timothy A. Graubert, M.D.

Photo of Timothy A. Graubert, M.D.
Timothy A. Graubert, M.D.
Associate Professor of Medicine, Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri
Whole Genome Sequencing of Myelodysplastic Syndromes

Administered by the NHLBI Division of Blood Diseases and Resources, Transfusion Medicine and Cellular Therapeutics Branch
FY 2009 Recovery Act Funding: $1,224,842

Timothy A. Graubert, M.D., is a hematologist-oncologist. He is interested in how blood cancers like leukemia get a foothold in the body. Because cancer is largely a "disease of DNA," analyzing genomic sequences from people who have inherited blood disorders, or from those who have had chemotherapy, can offer clues into why some of them develop leukemia.

Research Focus: Dr. Graubert studies myelodysplastic syndrome, a poorly understood set of diseases of the blood in which your bone marrow doesn't make enough normal blood cells. It used to be known as "pre-leukemia" because it can lead to that type of blood cancer. Myelodysplastic syndrome affects people of all ages, but most develop it in their 60s and 70s: The disease killed astronomer Carl Sagan and children's author Roald Dahl.

People are at higher risk if they have been diagnosed with other cancers and treated with chemotherapy drugs. The only cure is a hematopoietic stem cell transplant from a matched donor - an option not available to many people.

By looking closely at the sequences of DNA obtained from cancer cells (in particular, from a type of cancer called acute myeloid leukemia), scientists at Washington University, St. Louis, have found several tell&mdtale genetic changes that do not appear in the DNA of healthy cells. Using Recovery Act funds, Dr. Graubert will build on this body of knowledge to significantly expand the comparison of genomes from bone marrow cells of patients with myelodysplastic syndrome with DNA obtained from healthy cells from a skin sample of the same patient.

Since myelodysplastic syndrome is relatively rare, DNA samples from large groups of patients (or population studies) are not available. Dr. Graubert and his team will use a method called whole-genome sequencing to scour the DNA from the cells of patients who have this disorder. All the work will be done at the Genome Center at Washington University, St. Louis.

Public Health Impact: A key aspect of this team project is that it joins the expertise of DNA sequencing scientists with those that have deep knowledge of the conditions being studied, meaning the results can be translated more quickly into effective ways to predict health outcomes and prevent illness.

Dr. Graubert notes that the project will generate data that will accelerate research in the field immediately, and will likely spur many additional findings. In time, this investment will have a lasting impact on the diagnosis, risk stratification and treatment of patients with rare diseases like myelodysplastic syndrome.

Economic Impact: Washington University School of Medicine's 2,100 employed and volunteer faculty physicians also are the medical staff of Barnes-Jewish and St. Louis Children's hospitals. Dr. Graubert says that while the majority of his Recovery Act project's funds will go toward the equipment and staffing needs incurred by whole-genome sequencing, several researchers will be hired to participate in the project. According to the Families USA's 2007 economic analysis, each $1 investment in Missouri created an additional $2.09 in new business activity. The same study showed that for every $1 million invested, the expected number of new jobs created is over 14 full-time positions.

Career Path: Dr. Graubert grew up in Long Island, New York, where his father was a psychiatrist. He chose hematology during medical school at Harvard because of the enormous spectrum of disease the specialty covers.

"So much of it is still not understood, and I wanted to try to help change that," Dr. Graubert said.

Daily Inspiration: As a physician-scientist, Dr. Graubert still sees patients regularly. Those patients come in with a range of blood cancers, and thus this personal contact aligns Dr. Graubert with the research problems he tackles in the lab.

"All of our studies are inspired by our patients," Dr. Graubert said. "They generously provide tissue samples and medical histories, and in turn we go to extraordinary measures to protect their privacy."

By Alison Davis, Ph.D.

Last Updated:August 10, 2010

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