罕见疾病:人类基因组研究回家了。

IF 1.8 Q3 MEDICINE, RESEARCH & EXPERIMENTAL
Cold Spring Harbor Molecular Case Studies Pub Date : 2022-03-24 Print Date: 2022-02-01 DOI:10.1101/mcs.a006210
Hans-Hilger Ropers, Clara D van Karnebeek
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引用次数: 0

摘要

在经历了漫长而令人失望的迂回曲折之后,基因组研究重新认定罕见病是改善医疗保健的一个重要机会,也是了解基因和基因组功能的一条线索。在本期 CSH 特刊《罕见病分子病例研究》中,多篇特邀观点、大量病例报告以及本社论本身都探讨了这一广泛领域的最新突破和未决问题。这些问题既有令人振奋的无间隙全基因组测序诊断前景,也有与识别和区分致病变异和良性变异相关的顽疾;既有英国很快将不再是唯一一个将全基因组测序引入医疗保健领域的国家这一好消息,也有许多国家仍缺乏将基因组医学应用于患者的临床基础设施这一令人警醒的结论。由于与疾病有确切关系的基因不到 5000 个,因此鉴定至少两倍于此数量的疾病基因是一项重大挑战,而阐明这些基因的功能则是一项更为艰巨的任务。但是,鉴于人们对罕见疾病的重新关注、罕见疾病对医疗保健的重要性,以及研究罕见疾病的概念和方法的广泛性和不断扩大的范围,人类基因组研究的前景是光明的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Rare diseases: human genome research is coming home.

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.

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来源期刊
Cold Spring Harbor Molecular Case Studies
Cold Spring Harbor Molecular Case Studies MEDICINE, RESEARCH & EXPERIMENTAL-
CiteScore
3.20
自引率
0.00%
发文量
54
期刊介绍: Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal''s purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches. The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics. It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. The journal publishes: Research Reports presenting detailed case studies of individuals and small cohorts, Research Articles describing more extensive work using larger cohorts and/or functional analyses, Rapid Communications presenting the discovery of a novel variant and/or novel phenotype associated with a known disease gene, Rapid Cancer Communications presenting the discovery of a novel variant or combination of variants in a cancer type, Variant Discrepancy Resolution describing efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing, Follow-up Reports linked to previous observations, Plus Review Articles, Editorials, and Position Statements on best practices for research in precision medicine.
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