TY - JOUR
T1 - Rare diseases
T2 - human genome research is coming home
AU - Ropers, Hans-Hilger
AU - van Karnebeek, Clara D.
N1 - Funding Information: The authors thank Stephen Kingsmore and Elaine Mardis for their helpful comments on an early version of this editorial and for strategic advice, Thomas Wienker for thoroughly reading and discussing the penultimate version, Ada Hamosh and Joanna Amberger for alerting us to relevant publications, Laureen Connell for numerous discussions concerning the Special Issue, and Gwendolin Ropers for her patience. Publisher Copyright: © 2022 Ropers and van Karnebeek This article is distributed under the terms of the Creative Commons Attribution License, which permits unrestricted reuse and redistribution provided that the original author and source are credited.
PY - 2022/2/1
Y1 - 2022/2/1
N2 - After a long and largely disappointing detour, Genome Research has reidentified Rare Diseases as a major opportunity for improving health care and a clue to understanding gene and genome function. In this Special Issue of CSH Molecular Case Studies on Rare Diseases, several invited Perspectives, numerous Case Reports, and this Editorial itself address recent breakthroughs as well as unsolved problems in this wide field. These range from exciting prospects for gap-free diagnostic whole-genome sequencing to persisting problems related to identifying and distinguishing pathogenic and benign variants; and from the good news that soon, the United Kingdom will no longer be the only country to have introduced whole-genome sequencing into health care to the sobering conclusion that in many countries the clinical infrastructure for bringing Genome Medicine to the patient is still lacking. With less than 5000 genes firmly implicated in disease, the identification of at least twice as many disease genes is a major challenge, and the elucidation of their function is an even larger task. But given the renewed interest in rare diseases, their importance for health care, and the vast and growing spectrum of concepts and methods for studying them, the future of Human Genome Research is bright.
AB - After a long and largely disappointing detour, Genome Research has reidentified Rare Diseases as a major opportunity for improving health care and a clue to understanding gene and genome function. In this Special Issue of CSH Molecular Case Studies on Rare Diseases, several invited Perspectives, numerous Case Reports, and this Editorial itself address recent breakthroughs as well as unsolved problems in this wide field. These range from exciting prospects for gap-free diagnostic whole-genome sequencing to persisting problems related to identifying and distinguishing pathogenic and benign variants; and from the good news that soon, the United Kingdom will no longer be the only country to have introduced whole-genome sequencing into health care to the sobering conclusion that in many countries the clinical infrastructure for bringing Genome Medicine to the patient is still lacking. With less than 5000 genes firmly implicated in disease, the identification of at least twice as many disease genes is a major challenge, and the elucidation of their function is an even larger task. But given the renewed interest in rare diseases, their importance for health care, and the vast and growing spectrum of concepts and methods for studying them, the future of Human Genome Research is bright.
UR - http://www.scopus.com/inward/record.url?scp=85127068675&partnerID=8YFLogxK
U2 - https://doi.org/10.1101/mcs.a006210
DO - https://doi.org/10.1101/mcs.a006210
M3 - Review article
C2 - 35332074
SN - 2373-2873
VL - 8
JO - Cold Spring Harbor molecular case studies
JF - Cold Spring Harbor molecular case studies
IS - 2
M1 - a006210
ER -