Award

National Heart, Lung, and Blood Institute 5R01HL171213-03

COPD GWAS Functional Variant Identification in Airway Epithelial Cells using Deep Learning Splicing Models

Recipient

Brigham and Women's Hospital

Award Amount

$746,705.00

Ceiling

$746,705.00

Awarded

June 11, 2026

Identifier

5R01HL171213-03

NIH awarded $746,705 to Brigham and Women's Hospital for a project using deep learning to identify functional genetic variants affecting splicing in airway epithelial cells related to COPD, aiming to find new therapeutic targets.

Description

This project aims to study the role of genetic differences affecting alternative splicing in human airway epithelial cells (HAECs) to identify potential therapeutic targets using advanced sequencing and deep learning models. The research will generate genome-wide splicing quantitative trait loci (sQTL) maps in differentiated HAECs exposed to cigarette smoke or air, perform colocalization analysis with COPD GWAS loci, and develop gene regulatory networks to understand splicing regulation and its impact on COPD.

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