Sequencing Patients within Extended Utah Pedigrees to Identify Novel Idiopathic Pulmonary Fibrosis Genes

Idiopathic Pulmonary Fibrosis (IPF) is a rare but devastating disease that typically affects individuals in their fifties and sixties; IPF is universally fatal within three to five years of diagnosis. Evidence suggests that IPF patients are genetically predisposed toward developing the disease; however, a genetic basis for the majority of cases remains unknown.

Using Utah genealogic databases, including the Utah Population Database, a team led by Mary Beth Scholand, MD, has found common ancestors among patients with IPF, demonstrating increased heritability of the disease. The goal of this study is to examine the most informative extended pedigrees for variations within gene coding regions via exome sequencing, an efficient strategy for identifying disease-causing genes. The team is using state-of-the-art data analysis tools including ERSA and VAAST, to identify sequence variants that correlate with IPF disease. Results will be verified in readily accessible IPF patients throughout the country.

This study will offer critical insights into the pathophysiology of IPF, a mysterious, lethal disease for which there currently are no effective therapies, and will advance the development of desperately needed therapeutic interventions.

Idiopathic Pulmonary Fibrosis (IPF)

IPF pedigree