A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, Richard A. Gibbs, A. Micheil Innes, Olaf Riess, John Belmont, Sally L. Dunwoodie, Nebojsa Jojic, Timo Lassmann, Deborah Mackay, I. Karen Temple, Axel Visel, Gareth Baynam

Research output: Contribution to journalComment/debate

27 Citations (Scopus)

Abstract

The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.

Original languageEnglish
Pages (from-to)32-37
Number of pages6
JournalCell
Volume177
Issue number1
DOIs
Publication statusPublished - 21 Mar 2019

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