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

5 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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Inborn Genetic Diseases
Rare Diseases
Exome
Optimism

Cite this

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., ... Baynam, G. (2019). A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell, 177(1), 32-37. https://doi.org/10.1016/j.cell.2019.02.040
Boycott, Kym M. ; Hartley, Taila ; Biesecker, Leslie G. ; Gibbs, Richard A. ; Innes, A. Micheil ; Riess, Olaf ; Belmont, John ; Dunwoodie, Sally L. ; Jojic, Nebojsa ; Lassmann, Timo ; Mackay, Deborah ; Temple, I. Karen ; Visel, Axel ; Baynam, Gareth. / A Diagnosis for All Rare Genetic Diseases : The Horizon and the Next Frontiers. In: Cell. 2019 ; Vol. 177, No. 1. pp. 32-37.
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author = "Boycott, {Kym M.} and Taila Hartley and Biesecker, {Leslie G.} and Gibbs, {Richard A.} and Innes, {A. Micheil} and Olaf Riess and John Belmont and Dunwoodie, {Sally L.} and Nebojsa Jojic and Timo Lassmann and Deborah Mackay and Temple, {I. Karen} and Axel Visel and Gareth Baynam",
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Boycott, KM, Hartley, T, Biesecker, LG, Gibbs, RA, Innes, AM, Riess, O, Belmont, J, Dunwoodie, SL, Jojic, N, Lassmann, T, Mackay, D, Temple, IK, Visel, A & Baynam, G 2019, 'A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers' Cell, vol. 177, no. 1, pp. 32-37. https://doi.org/10.1016/j.cell.2019.02.040

A Diagnosis for All Rare Genetic Diseases : The Horizon and the Next Frontiers. / Boycott, Kym M.; Hartley, Taila; Biesecker, Leslie G.; Gibbs, Richard A.; Innes, A. Micheil; Riess, Olaf; Belmont, John; Dunwoodie, Sally L.; Jojic, Nebojsa; Lassmann, Timo; Mackay, Deborah; Temple, I. Karen; Visel, Axel; Baynam, Gareth.

In: Cell, Vol. 177, No. 1, 21.03.2019, p. 32-37.

Research output: Contribution to journalComment/debate

TY - JOUR

T1 - A Diagnosis for All Rare Genetic Diseases

T2 - The Horizon and the Next Frontiers

AU - Boycott, Kym M.

AU - Hartley, Taila

AU - Biesecker, Leslie G.

AU - Gibbs, Richard A.

AU - Innes, A. Micheil

AU - Riess, Olaf

AU - Belmont, John

AU - Dunwoodie, Sally L.

AU - Jojic, Nebojsa

AU - Lassmann, Timo

AU - Mackay, Deborah

AU - Temple, I. Karen

AU - Visel, Axel

AU - Baynam, Gareth

PY - 2019/3/21

Y1 - 2019/3/21

N2 - 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.

AB - 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.

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U2 - 10.1016/j.cell.2019.02.040

DO - 10.1016/j.cell.2019.02.040

M3 - Comment/debate

VL - 177

SP - 32

EP - 37

JO - Cell

JF - Cell

SN - 0092-8674

IS - 1

ER -

Boycott KM, Hartley T, Biesecker LG, Gibbs RA, Innes AM, Riess O et al. A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 Mar 21;177(1):32-37. https://doi.org/10.1016/j.cell.2019.02.040