title: Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015.
abstract: Pediatric rare lung disease (PRLD) is a term that refers to a heterogeneous group of rare disorders in children. In recent years, this field has experienced significant progress marked by scientific discoveries, multicenter and interdisciplinary collaborations, and efforts of patient advocates. Although genetic mechanisms underlie many PRLDs, pathogenesis remains uncertain for many of these disorders. Furthermore, epidemiology and natural history are insufficiently defined, and therapies are limited. To develop strategies to accelerate scientific advancement for PRLD research, the NHLBI of the National Institutes of Health convened a strategic planning workshop on September 3 and 4, 2015. The workshop brought together a group of scientific experts, intramural and extramural investigators, and advocacy groups with the following objectives: (1) to discuss the current state of PRLD research; (2) to identify scientific gaps and barriers to increasing research and improving outcomes for PRLDs; (3) to identify technologies, tools, and reagents that could be leveraged to accelerate advancement of research in this field; and (4) to develop priorities for research aimed at improving patient outcomes and quality of life. This report summarizes the workshop discussion and provides specific recommendations to guide future research in PRLD.
authors.affiliation: 1 Department of Pediatrics, Medicine, and Cell and Developmental Biology, Vanderbilt University, Nashville, Tennessee.
authors.forename: Lisa R
authors.initials: LR
authors.lastname: Young
authors.affiliation: 2 Department of Medicine, and.|3 Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, Ohio.
authors.forename: Bruce C
authors.initials: BC
authors.lastname: Trapnell
authors.affiliation: 4 Department of Pediatrics, and.|5 Department of Biomedical Informatics, Harvard Medical School, Computational Health Informatics Program, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Kenneth D
authors.initials: KD
authors.lastname: Mandl
authors.affiliation: 6 Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.
authors.forename: Daniel T
authors.initials: DT
authors.lastname: Swarr
authors.affiliation: 7 Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri; and.
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Wambach
authors.affiliation: 8 Division of Lung Diseases, National Heart, Lung, and Blood Institute, Bethesda, Maryland.
authors.forename: Carol J
authors.initials: CJ
authors.lastname: Blaisdell
mesh_terms: D035843:Biomedical Research / Q000639:trends*; D002648:Child; D006801:Humans; D008171:Lung Diseases / Q000209:etiology / Q000628:therapy*; D054555:National Heart, Lung, and Blood Institute (U.S.); D010372:Pediatrics; D017410:Practice Guidelines as Topic; D011788:Quality of Life; D035583:Rare Diseases / Q000209:etiology / Q000628:therapy*; D014481:United States
keywords: children; discovery; genomics; outcomes; rare disease