COPD GWAS Functional Variant Identification in Airway Epithelial Cells using Deep Learning Splicing Models
Overview
Organization: National Heart, Lung, and Blood Institute
Start Date: 09/2024
End Date: Ongoing
Primary Goal: Goal 4: Increase and sustain research to better understand the prevention, pathogenesis, diagnosis, treatment, and management of COPD.
Secondary Goal(s):
Objective(s):
- Help expand, coordinate, and optimize COPD research efforts
Collaboration: Brigham and Women's Hospital
Activity Type: Research
Activity Description
Chronic obstructive pulmonary disease (COPD) is one of the leading causes of mortality, but we have not yet discovered treatments that significantly reverse the lung damage of COPD. In this project, we will study an important cell type for COPD, human airway epithelial cells (HAECs), and we will understand how genetic differences between individuals can increase risk for COPD by their effects on alternative splicing in HAECs. We will use advanced long read sequencing and proteomic technologies, as well as deep learning models of alternative splicing to identify how COPD-causing genetic differences that affect splicing have broader effects on the biological processes and cellular functions of HAECs.Audience
General Audience: Researchers
Focused Audience: n/a
Program Reach: National
Type of Area: N/A
Setting: Workplace
Cost and Funding Sources
It was funded through the National Heart, Lung and Blood Institute and funds to be allotted to grantees.Impact Analysis
Results of their programs are in progress.Advice or Lessons Learned
In process.Related Links
Contact Information
National Heart, Lung, and Blood Institute
Program Analyst
Bethesda
Maryland