Cystic Fibrosis

Cystic fibrosis is a frequently occurring disease that affects one in 2500 people, causing damage to lung tissue, inflammation and acute susceptibility to bacterial infections. It is known that cystic fibrosis results from a genetic defect, but to date gene replacement is not available. Research efforts now include a search for drugs that target the protein produced by the defective gene, a type of protein called an ion channel. A more complete knowledge of the pathophysiology of the channel itself is needed, however, to provide new ideas for treatment strageties. Thus, an important goal is to generate disease models of cystic fibrosis employing stem cells.

An important source of human embryonic stem cells is embryos produced through in vitro fertilization (IVF). Prior to implantation, IVF physicians often evaluate the embryo for lethal, degenerative or debilitating disease markers. As many as 75 gene-based diseases, including cystic fibrosis, can be diagnosed at this stage. These defective embryos would not be used for implantation but can be used to obtain stem cells to establish a model for the disease. Specifically, they can be used to examine the pathophysiologic mechanisms that underlie the disease and to test potential new drugs. This work cannot be supported by federal funds that restrict studies on new human embryonic stem cells.

Sanford-Burnham research on cystic fibrosis

Professor Evan Snyder has the opportunity to apply this technology to an embryo that has recently been identified with genetic predisposition for cystic fibrosis. For this project, embryonic stem cells will be isolated from this embryo and used as a disease model for cystic fibrosis. These stem cells will be used to probe the biochemical mechanisms that influence the development of cystic fibrosis with a high-throughput approach.

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