Accessible Search Form           Advanced Search

Skip left side navigation and go to content


Genomic Medicine and Lung Diseases

Executive Summary


Most lung diseases are chronic, phenotypically heterogeneous and often irreversible. These characteristics present major challenges for improving early detection and prevention strategies, as well as developing interventions that will reduce morbidity and mortality. Lung disease is pervasive worldwide, and exerts a heavy burden at the individual and societal level. Since 1980, death rates from COPD and the prevalence of asthma have doubled, but new therapeutics has not altered this progression. While early diagnostics for lung diseases have not kept pace with other organ systems and many treatments are predominantly symptom based, new advances in omics technology offer promise for elucidating the pathophysiology of lung disease, and translating this knowledge into improved diagnostic and intervention strategies.

The recent explosion of genomics data has most clearly demonstrated its potential to redefine lung diseases at the molecular level. This research has been efficient because it has taken advantage of existing cohorts and advanced omic technologies. However, few genomics-like studies are addressing how to use multiple omics approaches in clinical applications, such as detecting preclinical disease, predicting patient outcomes, guiding treatment choices and most of all identifying potential therapeutic targets

Workshop Description

The Division of Lung Diseases (DLD) in the National Heart, Lung and Blood Institute (NHLBI) convened a workshop, "Genomic Medicine and Lung Diseases," on July 18 and 19, 2011 to discuss how global or systems approaches and omics technologies will contribute to the development of 21st century pulmonary medicine, and to evaluate the most promising opportunities for this next phase of genomics research most likely to yield clinical benefit. After intensive review and discussion of all current omics studies and their immediate and long term potentials, the workshop identified the following priority areas for NHLBI:


  • Build a virtual "Pulmonary Genomics Workstation" by encouraging/incentivizing collaboration throughout the lung genetics/genomics community through data sharing in computing spaces like Synapse of Sage Bionetworks, to generate a common data repository suitable for multilevel analysis.
  • Construct cell-type specific molecular/functional network atlas of human lung cells relevant to respiratory diseases (epithelial, fibroblast, endothelia, and smooth muscle) using integrative genomic approaches. This is to enable the discovery of dynamic changes of gene networks in response to relevant perturbations and deviations from normal states in disease; and develop network analyses of these to reveal functionally important modules and potential disease targets.
  • Apply pan-omics analysis to clinical cohorts to delineate functional molecular network components that have direct impact to the development of lung diseases and response to therapeutic treatments. It could be made cost-effective by adding additional Omics measurements to the cohorts that already collect some Omics data (e.g., GWAS or gene expression).
  • Promote research to investigate the intersection between the molecular phenotype of lung diseases and the molecular signatures of drug compounds (e.g., Connectivity Map) for the purpose of drug repurposing for lung diseases and delineating the interactions between genes and drugs.
  • Standardize and validate transcriptomic, genomic, and epigenomic biomarkers in chronic lung disease in surrogate tissues across disease boundaries; and use integrated genomic and phenomic profiles to reclassify chronic lung disease and as complex phenotypes in genetics studies. Encourage investigation of mechanisms underlying heterogeneity of response to drugs.
  • Advance computational biology (e.g., multiscale modeling) to build molecular networks from Omics data in order to discern emergent behaviors across multiple biological mechanisms/components relevant to human respiratory disease and to systematically study how dynamic interactions among genes and environmental perturbations are involved in disease development.

Workshop Roster

Co-Chairs and Session Chair

  • David M. Center, MD, Boston University
  • David Schwartz, MD, MPH, University of Colorado
  • Julian Solway, MD, University of Chicago
  • Scott T. Weiss, MD, Channing Laboratory of the Brigham and Women's Hospital, Harvard Medical School


  • Ronald G. Crystal, MD, Cornell University
  • Avrum Spira, MD, M.Sc., Boston University
  • Benjamin A. Raby, MD, M.P.H., Channing Laboratory of the Brigham and Women's Hospital Harvard Medical School
  • Irfan Rahman, PhD., University of Rochester
  • Naftali Kaminski, MD, University of Pittsburgh
  • Bruce Littman, MD, Translational Medicine Associates, LLC
  • Pierre Chaurand, PhD, Université de Montréal
  • Nathan D. Price, PhD, University of Illinois
  • Stephen H. Friend, MD, PhD, Sage Bionetworks
  • Jini Naidoo, PhD, University of Pennsylvania
  • Kathleen A. Stringer, Pharm.D., University of Michigan
  • Rasika Mathias, PhD, Johns Hopkins University
  • Prescott Woodruff, MD, M.P.H., University of California San Francisco
  • Paolo Sassone-Corsi. PhD, University of California, Irvine
  • Dietrich Stephan, PhD., Navigenics, INC
  • Jennifer Wambach, MD, Washington University
  • Mariano Alvarez, PhD, Columbia University
  • Mukesh Bansal, PhD, Columbia University


  • Weiniu Gan, PhD, Division of Lung Diseases
  • Dorothy Gail, PhD, Division of Lung Diseases
  • James P. Kiley, PhD, Division of Lung Diseases
  • Aaron D. Laposky, PhD, Division of Lung Diseases
  • Sara Lin, PhD, Division of Lung Diseases
  • Thomas Croxton, MD, PhD, Division of Lung Diseases
  • Sandra Colombini-Hatch, MD, Division of Lung Diseases

Last Updated: November 2011

Twitter iconTwitterimage of external icon Facebook iconFacebookimage of external icon YouTube iconYouTubeimage of external icon Google+ iconGoogle+image of external icon