• By Dana Sparks

Discovery’s Edge: The dawn of a new medical era with genomics

June 13, 2017

A genome is a mind-boggling amount of information. Researchers have labored for decades to order and identify more than 3 billion base pairs of DNA in a set of human chromosomes.

That was just the beginning of research on the human genome. Researchers are now exploring how deeper genetic knowledge can be used for early detection of diseases, such as heart disease, Alzheimer’s disease and various types of cancer. With this expanding knowledge, they hope to find new treatments for some of the world’s most pressing medical challenges.

Genetic research first intrigued pharmacologist Richard Weinshilboum, M.D., of Mayo Clinic in Rochester, Minn., more than 30 years ago, when he began painstaking biochemistry techniques in his Pharmacogenomics Laboratory.

As Dr. Weinshilboum’s research team studied enzymes involved in eliminating neurotransmitters, they discovered a related enzyme, known as TPMT, that eliminated a particular type of toxicity from the body after drug therapy for certain leukemia patients. Because 1 in 300 children with leukemia had adverse reactions to the drug therapy, Dr. Weinshilboum was curious whether variations in enzyme levels based on each child’s genes played a role in the side effects.

“We wondered if there was a genetic inability to break down the drug, essentially causing an overdose in kids who couldn’t metabolize it,” he recalls. Read the rest of the article.
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