Using Integrative Genomics To Identify and Characterize Emphysema-Associated eQTL
Overview
Organization: National Heart, Lung, and Blood Institute
Start Date: 09/2021
End Date: 05/2025
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
- Improve methods for earliest detection and diagnosis and develop effective strategies for preventing the onset and progression of COPD
- Define and characterize the pathogenesis of COPD heterogeneity
- Promote research that can lead to strategies that help prevent the onset and progression of COPD and improve the quality of COPD care and management
Collaboration: Brigham and Women’s Hospital
Activity Type: Research
Activity Description
This NHLBI-funded research activity is being carried out by Brigham and Women’s Hospital.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 study, we continue a successful project that has already identified ACVR1B and TGFB2 as likely COPD-causing genes, and we will use new methods to directly observe alternative splicing in lung tissues and cell types in order to identify new COPD-causing genes and disease mechanisms. The genes and disease mechanisms identified by this project will advance efforts to identify new treatments for COPD that could improve the lives of millions of people affected by this disease worldwide.
Audience
General Audience: Researchers
Focused Audience: n/a
Program Reach: National
Type of Area: N/A
Setting: Workplace
Cost and Funding Sources
This activity was funded through the National Heart, Lung, and Blood Institute.Impact Analysis
Results of program are in progressAdvice or Lessons Learned
In processContact Information
National Heart, Lung, and Blood Institute
Program Analyst
Bethesda
Maryland