Human genome. Gene mutations. Targeted therapies. Personalized medicine.
These terms and more hit the news headlines every day, but most consumers have little understanding of what they mean and how the biggest advances being made in medicine today are affecting them.
In a new book, Mark Johnston, PhD, professor and chair of the department of biochemistry and molecular genetics at the University of Colorado School of Medicine, and his co-author Stanley Fields, PhD, professor of genome sciences and medicine at the University of Washington, help consumers understand the rapidly expanding world of genetics. Their book, Genetic Twists of Fate, was published earlier this month by MIT Press. It is a layman’s guide to understanding how DNA not only influences how people look and behave but also how likely they are to develop common diseases, including cancer.
“Cancer is essentially a genetic disease, due to mutation in lots of different genes,” Johnston says. “Physicians use that information to ‘type’ cancers to predict prognosis and choose treatments. We’re already doing that for lots of cancers and people need to understand what a gene is, what a mutation is and how mutations in particular genes personally impact them.”
Recently, for instance, a UCCC research laboratory discovered that pre-treating a particular type of bladder cancer cell with a drug increased its susceptibility to chemotherapy. In the future, that study may translate to doctors prescribing different types of drugs depending on the specific genetic make-up of a person’s bladder cancer, a field known as pharmocogenetics.
“That is exactly where science is headed,” says Johnston, referring to this study by UCCC researcher Thomas Flaig, MD, and his team.
Using easy-to-understand language and analogies, Johnston and Fields explain how cells and proteins work. Once they have laid the groundwork, they delve into the most important genetic diseases using interesting and sometimes astonishing true stories of people impacted by those diseases. In one chapter, for instance, the authors tell about a St. Louis mother convicted of murdering her young son, who was actually killed by a genetic disorder.
“Our goal was to do a better of explaining this information because it’s going to affect everyone every day,” Johnston says.
Johnston was named the medical school’s chairman of biochemistry and molecular genetics in early 2009. He also is member of the UCCC cancer cell biology program. Previously, he was a professor of genetics at Washington University School of Medicine in St. Louis. His lab is currently researching how organisms sense glucose. The lab recently discovered glucose receptors on the cell’s surface and are trying to understand how these work and whether they are present in other organisms, including humans.
Johnston led an international research consortium that produced a collection of 6,000 yeast mutants, each of which had a separate single gene knocked out. This work, published in 2002, was the first time an organism’s entire genome was surveyed to identify the effect of inactivating each individual gene.