The National Heart, Lung and Blood Institute has awarded Vanderbilt University Medical Center (VUMC) an $11 million project renewal grant to investigate the genetics and biological processes that contribute to idiopathic pulmonary fibrosis (IPF).
IPF has been a focus of study for Dr. Timothy Blackwell, a professor at the Ralph and Lulu Owen School of Medicine for the past 15 years. The grant renewal will advance the study of genetics involved in IPF
The program project grant is led by Blackwell and Dr. James Loyd, a professor of pulmonary medicine. Key contributors also include Drs. William Lawson, Jonathan Kropski, Lisa Young, John Worrell, and Joy Cogan, PhD.
“This has been a really successful program so far; it’s unique in the field,” Blackwell said in a university news story published on the school’s website. “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.”
The IPF group already has established a database in partnership with the University of Colorado that comprises genetic material from more than 1,200 families. Various projects will include the functions of new genetic mutations, and how genes influence biology and histologic modifications in familial and sporadic IPF.
The team recently published findings from one new gene that accounts for about 5 percent of all the cases. They are working now on several other genes that have been identified in specific families that are associated with IPF.
In most cases, IPF occurs in only one person in a family. These cases are called sporadic. But about 10 to 20 percent of people with IPF have at least one other affected family member. When IPF occurs in multiple members of the same family it is known as familial pulmonary fibrosis. Familial IPF has so far been connected to several genes in two families but genetic contributions in the majority of families remains unknown.
“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 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,” Blackwell said.
The group will also attempt to establish the biological history of the disease by examining family members who do not show symptoms of IPF patients but who have relatives with the disease. The ability to identify factors that could lead to IPF may provide chances for early detection and prevention.
IPF is a chronic, progressive lung disease that causes scar tissue (fibrosis) to build up in the lungs, making them unable to effectively transport oxygen into the bloodstream. The disease affects approximately 50,000 adults over the age of 65 in the United States but few treatment options exist.