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Lecture focuses on genetic analysis to pinpoint disease
By LOIS BAKER
Contributing Editor
Norma Nowak, director of science and technology for UB's New York State Center of Excellence in Bioinformatics and Life Sciences, described the latest advances of her lab in characterizing abnormalities in an individual's DNA that are responsible for gene-based diseases and developmental disorders during the inaugural presentation on Monday of a special lecture miniseries celebrating the grand opening of the center.
Nearly 100 scientists and lay people gathered in the Center of Excellence to hear the presentation by Nowak, who also is director of the UB/Roswell Park Cancer Institute (RPCI) Microarray and Genomics Facility. The miniseries is part of the 2006 UBThisSummer lecture series addressing "Our Community and Our World."
While primarily the domain of scientists at this stage, the knowledge Nowak described in her lecture opens the door to individualizing therapy for diseases to ameliorate symptoms, she said. "For cancer, we can use this information to more accurately classify and stage patients, and identify new targets around which we can create new therapies."
Nowak began her career doing genetics research at RPCI, but her interest in identifying the genetic basis of disease deepened following the death 10 years ago of her husband, Thomas Freeburg, who succumbed to Hodgkin's lymphoma, a cancer considered very treatable.
"When something like this happens, it changes the way you live your life," said Nowak. "I wanted answers. 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, in addition to using traditional methods for determining a diagnosis and stage for these patients."
The focus of their work at the UB/RPCI Microarray and Genomics Facility is to compare the DNA of a healthy person with that of a person suffering from a heritable condition or a sporadic, nonfamilial condition or a disease, both of which have a genetic component. Certain diseases also can occur through a combination of genetics and environmental effects due to and including diet, smoking and exposure to asbestos or other carcinogens that can result in DNA damage.
A DNA microarray is a collection of DNA segments that are attached to a solid surface, such as a glass or plastic slide, forming an "array" of DNA.
"The healthy DNA and the DNA from the affected person are labeled with different fluorescent dyes observed as pseudo-colors; green and red respectively," Nowak said. "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 appear yellow," Nowak said.
"Those that have lost DNA in the disease state will appear green, and those that are over-represented 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 over-represented and overexpressed, such as HER2/neu in breast cancer," she said. "The drug Herceptin is a therapy that targets this gene and minimizes its effects."
In addition to conducting their own genetics research, Nowak and colleagues at the UB/RPCI Microarray and Genomics Facility perform $800,000-worth of microarray analysis annually for outside clients. Nowak's lab has developed and implemented the infrastructure to perform 100 tests per week. The lab has been performing microarray experiments for more than six years.
"During this time, our lab developed and made improvements to all aspects of microarray assays, from array design through data analysis," Nowak said. "In addition, the lab has dramatically improved sample throughput by automation."
Knowing there is a demand for this technology, Nowak has teamed with a group called Buffalo Biosciences to establish Empire Genomics, a commercial enterprise.
"One of the goals of the Center of Excellence, in addition to doing cutting-edge research, is to create in Buffalo a life-sciences industry to replace the now-defunct manufacturing sector and create jobs," said Nowak.
"We are trying to build a 'bioeconomy.' Our market research shows there will be a $1 billion market share by 2010 in this particular segment of the biotechnology industry. Our goal is to provide the technology as a service, continue to improve the technology and decrease the cost, identify biomarkers that can be developed into tools for FISH [fluorescent in situ hybridization] and immunohistochemical assays that can be used in pathology labs, thus bringing this technology into the clinical mainstream where it can be used to diagnose disease very early, when it is most treatable," she said.