Vanderbilt’s IPF Researchers Awarded $11M Grant to Study Genetics of Disease

Vanderbilt’s IPF Researchers Awarded $11M Grant to Study Genetics of Disease

The National Heart, Lung and Blood Institute (NHLBI) has awarded Vanderbilt University Medical Center (VUMC) an $11 million project renewal grant to study the genetics and biological mechanisms behind idiopathic pulmonary fibrosis (IPF).

Dr. Timothy Blackwell, MD, the Ralph and Lulu Owen Professor of Medicine, has studied IPF for the past 15 years. The grant renewal will help his team better understand the genetics of IPF, a condition affecting nearly 50,000 adults over the age of 65 in the United States.

Researchers estimate that 10 to 20 percent of IPF cases may be familial, and these cases have been linked to a series of genes in two gene families. But the genetic contributors in most families have not yet been found.

Blackwell’s team has established a database in collaboration with the University of Colorado containing genetic information of more than 1,200 families. The grant will finance a series of projects studying genetic discoveries based on this database. Researchers will also look at how genetics influence biologic and histologic changes that occur during IPF progression in sporadic (isolated) cases and familial (more than one member in a family) cases.

“We’ve made real progress in terms of identifying new genes that cause disease in families. We recently published one new gene that accounts for about 5 percent of all the cases, and we’re working on several other genes that we’ve identified in specific families that are associated with disease,” Blackwell said in a press release.

“Familial pulmonary fibrosis is a jigsaw puzzle with lots of small pieces. We think these small pieces of individual genes are going to fit into a few pathways within gene families. If we can validate enough of these genes present in a small number of families, the picture will start to take shape and it will be much clearer how to identify culprit mutations in other families.”

The IPF research group will also study the natural history of the disease by analyzing people who have no symptoms, but have relatives diagnosed with the disease.

“If we could start to identify the factors that predict progression to clinical disease in asymptomatic people, that would offer us a chance to do early detection and prevention,” Blackwell said.

Blackwell’s team includes Dr. John Phillips III, MD; David T. Karzon, professor of pediatrics and director of the Division of Medical Genetics and Genomic Medicine in Pediatrics; Dr. David Schwartz, MD, professor and chair of the Department of Medicine at the University of Colorado; Joy Cogan, PhD; Dr. William Lawson, MD; Dr. Jonathan Kropski, MD; Dr. Lisa Young, MD; and Dr. John Worrell, MD.

Co-leading the project with Blackwell is Dr. James Loyd, MD, the Rudy W. Jacobson Professor of Pulmonary Medicine.

“This has been a really successful program so far; it’s unique in the field,” Blackwell said. “Ours is the only large study looking at the genetics of pulmonary fibrosis in the country. The work by Jim Loyd and our study coordinators, Cheryl Markin and Errine Garnett, along with the efforts of our collaborators in Denver, have enabled us to enroll and follow more families with IPF than any other group in the world. We have this really unprecedented opportunity to try to understand the genetics of this disease.”

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