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The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)e83-e86
JournalJournal of Investigative Dermatology
Volume137
Issue number5
Early online date12 Apr 2017
DOIs
Publication statusPublished - May 2017

King's Authors

Abstract

The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late 20th century molecular genetics. Mutation data can provide accurate diagnoses, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. The process of detecting disease mutations, however, has not always been straightforward. Traditional approaches using genetic linkage or candidate gene analysis have often been limited, costly, and slow to yield new insights, but the advent of next-generation sequencing (NGS) technologies has altered the landscape of current gene discovery and mutation detection approaches.

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