Cystic Fibrosis Genetics: from Molecular Understanding to Clinical Application

Overview

Journal Nat Rev Genet

Specialty Genetics

Date 2014 Nov 19

PMID 25404111

Citations 434

Authors

Garry R Cutting

Affiliations

Soon will be listed here.

Abstract

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.

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