University of Wisconsin researchers have undertaken a genomic study involving patients with cystic fibrosis, aiming to uncover data that explain variation in symptoms among those afflicted with the genetic lung disease. And researchers believe that bioinformatics and other new resources give them an "edge" in the fight to improve treatments, according to the university's release.
As the university points out, the symptoms of CF are attributed to the malfunction of a single gene. However, CF affects patients with the same disease much differently than others. Led by emeritus Prof. Phil Farrell, medical researchers plan to decode the genomes of 300 patients with the disease to hunt for genetic clues that could explain how the illness is presented differently in certain patients. They plan to tap the capabilities of the UW-Madison Bioinformatics Resource Center, which opened a year ago to provide DNA sequencing, alignment and analysis services to researchers.
"In a sense, the bioinformatics is the bridge between the lab analysis and the discovery of knowledge to help you understand the disease," Farrell said in a statement. "We're looking at the whole genomes of almost 300 people. If we can find unknown genetic modifiers, we might be able to improve on a treatment strategy for patients that is now one size fits all."
Researchers have already discovered more than 1,500 mutations of the key gene that malfunctions in CF patients. Last year, Vertex Pharmaceuticals ($VRTX) won FDA approval of the drug Kalydeco for the 4% of CF patients with the G551D mutation, and the company has embarked on the development of combo treatments to serve broader sets of patients with the illness. So drug research and treatment has already evolved beyond the one-size-fits-all approach.
Farrell and his colleagues could uncover how other genes impact the course of the disease. This could explain why even patients with the same CFTR gene mutations present the disease differently. The U-W Madison's bioinformatics resources provide some of the tools to seek out such answers from huge amounts of genomic data.
It's not alone. The university is among a growing group of academic centers with bioinformatics and genomics centers. Others include the Broad Institute of MIT and Harvard, the University of California, Santa Cruz and the University of Oxford, among others.
- here's the release
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