TY - JOUR
T1 - Cystic fibrosis genetics
T2 - From molecular understanding to clinical application
AU - Cutting, Garry R.
N1 - Publisher Copyright:
© 2014 Macmillan Publishers Limited. All rights reserved.
PY - 2015/1/11
Y1 - 2015/1/11
N2 - The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.
AB - The availability of the human genome sequence and tools for interrogating individual genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian conditions, which are caused by dysfunction of a single gene, offer powerful examples that illustrate how genetics can provide insights into disease. Cystic fibrosis, one of the more common lethal autosomal recessive Mendelian disorders, is presented here as an example. Recent progress in elucidating disease mechanism and causes of phenotypic variation, as well as in the development of treatments, demonstrates that genetics continues to play an important part in cystic fibrosis research 25 years after the discovery of the disease-causing gene.
UR - http://www.scopus.com/inward/record.url?scp=84927176500&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84927176500&partnerID=8YFLogxK
U2 - 10.1038/nrg3849
DO - 10.1038/nrg3849
M3 - Review article
C2 - 25521684
AN - SCOPUS:84927176500
SN - 1471-0056
VL - 16
SP - 45
EP - 56
JO - Nature Reviews Genetics
JF - Nature Reviews Genetics
IS - 1
ER -