$10M NIH Grant Aims to Identify Genes Linked to COPD, Other Diseases

Joana Fernandes, PhD avatar

by Joana Fernandes, PhD |

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mutation in the PMP22 gene

The National Heart, Lung and Blood Institute (NHLBI) of the National Institutes of Health has granted $10 million to the McDonnell Genome Institute at Washington University to investigate and identify genes associated with chronic obstructive pulmonary disease (COPD) and other lung disorders in people from diverse ethnic backgrounds.

Results of these types of genetic studies based on DNA sequencing provide new insights that may not only help determine the risk of having a specific disease, but also help design appropriate new therapies.

This project is part of the NHLBI’s TOPMed program, an initiative that aims to discover the genetic origin of several diseases affecting the lungs, heart, blood, and sleep — namely COPD, asthma, sleep apnea, stroke, hemophilia, obesity, and sickle cell disease.

Researchers will analyze DNA samples from people with different ethnicities participating in U.S. clinical trials. So far, the program includes 62,000 participants from more than 30 studies.

Using samples from different ethnic groups will strengthen the national genomic databases and reflect the diversity of U.S. citizens. The current program includes people whose ancestors were from Europe (50 percent), Africa (30 percent), Hispanic or Latino countries (10 percent), and Asia (8 percent). It also includes 2 percent of people from indigenous populations, such as Pacific Islanders.

“Most other large genome sequencing projects have focused on Europeans and Caucasians,” Susan K. Dutcher, PhD, principal investigator of the project, said in a Washington University news release written by Julia Evangelou Strait.

“With this program, we are including many people with other racial and ethnic backgrounds. Increasing the diversity of the groups being sequenced is important in understanding how genetic variations influence disease risk,” Dutcher added.

The search for genes underlying the development of different diseases requires a very large number of participants so that researchers can analyze DNA sequences in accordance with each participant’s background and establish reliable comparisons with those of healthy individuals.

“It’s also important that the total number of patients in the project is huge,” Dutcher said. “Early phases of TOPMed have already sequenced the genomes of 85,000 people. This year, for Washington University’s portion of the project, we’re sequencing the genomes of about 6,500 patients with lung diseases, primarily COPD and interstitial pulmonary fibrosis, a progressive scarring of lung tissue with variable causes, including autoimmunity.”

Besides the McDonnell Genome Institute, the program also includes other centers dedicated to DNA sequencing, such as the Broad Institute of MIT and Harvard University.