Federal Grant Award Summary

The National Heart, Lung, and Blood Institute (NHLBI) awarded Brigham and Women's Hospital a Project Grant of $120,825 under the Cardiovascular Diseases Research program (CFDA 93.837) effective April 1, 2026, through January 31, 2028. The award supports research aimed at discovering rare splicing variants in whole blood and lung tissue that contribute to chronic obstructive pulmonary disease (COPD) susceptibility. Building on prior genome-wide association study (GWAS) findings identifying 82 COPD-associated loci, this project investigates how rare genetic variants influence COPD risk through aberrant splicing events that alter RNA isoforms, complementing earlier work on common variants that explains only 5-10% of COPD heritability.

The research project addresses a significant gap in understanding COPD genetics by identifying and characterizing rare coding variants with large functional effects on gene regulation and expression. The work leverages recent advances in genome-wide and exome sequencing to interpret the functional and clinical impact of rare variants, with particular focus on splice-altering mutations that may drastically alter protein structure or function. This research directly extends Dr. Saferali's prior K01-funded investigations of genetic modulation of COPD through splicing mechanisms and contributes to the NHLBI's mission to advance prevention and treatment of heart, lung, and blood diseases through evidence-based genetic research.