TY - JOUR
T1 - Accelerating scientific advancement for Pediatric rare lung disease research
T2 - Report from a National Institutes of health-NHLBI workshop, September 3 and 4, 2015
AU - Young, Lisa R.
AU - Trapnell, Bruce C.
AU - Mandl, Kenneth D.
AU - Swarr, Daniel T.
AU - Wambach, Jennifer A.
AU - Blaisdell, Carol J.
N1 - Publisher Copyright:
© Copyright 2016 by the American Thoracic Society.
Copyright:
Copyright 2017 Elsevier B.V., All rights reserved.
PY - 2016/12
Y1 - 2016/12
N2 - 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.
AB - 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.
KW - Children
KW - Discovery
KW - Genomics
KW - Outcomes
KW - Rare disease
UR - http://www.scopus.com/inward/record.url?scp=85007500909&partnerID=8YFLogxK
U2 - 10.1513/AnnalsATS.201605-402OT
DO - 10.1513/AnnalsATS.201605-402OT
M3 - Article
C2 - 27925785
AN - SCOPUS:85007500909
VL - 13
SP - S385-S393
JO - Annals of the American Thoracic Society
JF - Annals of the American Thoracic Society
SN - 2325-6621
IS - 12
ER -