Norma Nowak was enjoying her life as a genetics researcher at Roswell Park Cancer Institute (RPCI), working flexible hours that left her free to tend to the needs of her two young sons when, harshly, fate intervened.
In 1995, her husband, Thomas Freeburg, whom she met while they were both undergraduates at Canisius College in Buffalo, succumbed to Hodgkin’s lymphoma, a cancer considered very treatable.
“Both of my boys suffered during and after Tom’s death,” says Nowak. “They saw things adults have a difficult time dealing with and comprehending. They couldn’t understand, why despite everything we tried at RPCI, the cancer kept growing and spreading.
“My youngest son was very angry, and sad,” she says of that dark time 11 years ago. “He wanted to know why, if I was so smart, I couldn’t help his dad: Why couldn’t I find a way to make Dad better; why didn’t I have the answers?
“When something like that happens, it changes the way you live your life,” Nowak says. “I want to know what makes these patients different, so that another family won’t have to go through what we experienced. We know that 10 percent of people who develop Hodgkin’s lymphoma are refractory to treatment and will not survive, but we still do not know why these individuals are different from the other 90 percent of patients.
“We want to better characterize those patients at the molecular level—this may be where we can identify differences that thus far have eluded us—in addition to using traditional methods for determining a diagnosis and stage for these patients.”
Nowak played an important role in the effort to decipher the human genome through her work on characterizing and mapping human bacterial artificial chromosome libraries at Roswell Park, using DNA of anonymous Buffalo donors. The draft sequence for the human genome was derived using these libraries.
Her current work as head of the UB/RPCI DNA Microarray and Genomics Facility and director of scientific planning for the New York State Center of Excellence in Bioinformatics and Life Sciences, centers on using this genome map to find clues to the genesis of cancer and other diseases.
Using an application called a “DNA microarray”—a collection of DNA segments that are attached to a solid surface, such as glass or plastic slide, forming an “array” of DNA—her lab compares the DNA of a healthy person with that of a person suffering from an inherited condition, or a disease thought to have a genetic component, either inherited or caused by environmental effects, such as diet, smoking and exposure to asbestos or other carcinogens, that can result in DNA damage.
“DNA from a healthy, normal source and the DNA from an individual affected with a disease are labeled with different fluorescent dyes that show up as green and red spots respectively,” Nowak notes. “Those regions of the genome that are equal between two samples in the amount of DNA will have equal fluorescence of both red and green dyes, and will appear yellow. Those that have lost DNA in the disease state will appear green, and those that are overrepresented in the disease state appear red. Each spot is mapped to the genome, and aberrant regions and the genes that lie within these regions are identified.
“Right now we are identifying genes that are overrepresented and overexpressed, such as HER2/neu in breast cancer,” she says. “The drug Herceptin is a therapy that targets this gene and minimizes its effects.”
Another research project is intensely personal. Working with a pathologist at City of Hope Cancer Center in Los Angeles, she is studying Hodgkins’s lymphoma cells from patients who, like her husband, do not respond to treatment.
“We need to find out why these patients are different,” says Nowak. “As far as we’ve come, we probably have further to go. But someday we will be able to save another family from experiencing what happened to us.”
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