2022 年：罕见遗传病诊治的关键之年。
2022: a pivotal year for diagnosis and treatment of rare genetic diseases.
机构信息
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California 92123, USA; Keck Graduate Institute, Claremont Colleges, Claremont, California 91711, USA.
出版信息
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2). doi: 10.1101/mcs.a006204. Print 2022 Feb.
Abstract
The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation.
摘要
2022 年初是产前、儿科和成人罕见遗传病诊断和治疗发展的一个转折点——这是本期特刊的主题。在此，我简要回顾了遗传病诊断和治疗两个关键方面的最新进展：教育和公平实施。
相似文献
1
2022: a pivotal year for diagnosis and treatment of rare genetic diseases.2022 年：罕见遗传病诊治的关键之年。
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2). doi: 10.1101/mcs.a006204. Print 2022 Feb.
2
[Rare diseases and the CRISPR technology...].[罕见疾病与CRISPR技术……]
Ann Biol Clin (Paris). 2016 Mar-Apr;74(2):125-9. doi: 10.1684/abc.2016.1131.
3
The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.长尾与罕见病研究：新一代测序技术对罕见孟德尔疾病的影响
Genet Res (Camb). 2015 Sep 14;97:e15. doi: 10.1017/S0016672315000166.
4
Key challenges in the treatment of rare pediatric skeletal genetic disorders: from bench to bedside.小儿罕见骨骼遗传疾病治疗中的关键挑战：从实验室到临床
Drug Discov Today. 2015 Jul;20(7):781-3. doi: 10.1016/j.drudis.2015.04.008. Epub 2015 May 2.
5
Patients with rare diseases: from therapeutic orphans to pioneers of personalized treatments.罕见病患者：从治疗孤儿到个体化治疗的先驱。
EMBO Mol Med. 2018 Jan;10(1):1-3. doi: 10.15252/emmm.201708365.
6
[The Care-for-Rare Center at the Dr. von Haunerschen Pediatric Hospital in Munich. Help for children with rare illnesses].[慕尼黑冯·豪纳斯儿童医院的罕见病关爱中心。为罕见病患儿提供帮助]
MMW Fortschr Med. 2014 Dec 15;156(21-22):40.
7
[Ophthalmogenetics: Rare Diseases - A Challenge for Diagnostic and Treatment].[眼科遗传学：罕见疾病——诊断与治疗的挑战]
Klin Monbl Augenheilkd. 2016 Mar;232(3):242. doi: 10.1055/s-0041-109518. Epub 2016 Mar 24.
8
Addressing challenges in the diagnosis and treatment of rare genetic diseases.解决罕见遗传疾病诊断和治疗中的挑战。
Nat Rev Drug Discov. 2018 Mar;17(3):151-152. doi: 10.1038/nrd.2017.246. Epub 2017 Dec 15.
9
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.1158 例罕见肝胆疾病患儿的临床特征及诊断挑战。
Pediatr Res. 2021 Jan;89(1):238-245. doi: 10.1038/s41390-020-0888-4. Epub 2020 Apr 12.
10
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.荷兰-佛兰芒综合性别发育障碍诊断指南中未充分报告的诊断和治疗方面。
J Med Genet. 2020 Sep;57(9):581-589. doi: 10.1136/jmedgenet-2019-106354. Epub 2020 Apr 17.
引用本文的文献
1
Clinical Exome Sequencing in Pediatric Patients.儿科患者的临床外显子组测序
Cureus. 2025 Mar 10;17(3):e80330. doi: 10.7759/cureus.80330. eCollection 2025 Mar.
2
Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access.英国和爱尔兰的罕见病基因组检测：促进及时和公平的获取途径。
J Med Genet. 2024 Nov 25;61(12):1103-1112. doi: 10.1136/jmg-2024-110228.
3
Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.临床外显子组测序揭示疑似缺氧缺血性脑病新生儿的遗传疾病：一项回顾性分析。
Clin Genet. 2024 Jul;106(1):95-101. doi: 10.1111/cge.14522. Epub 2024 Mar 28.
4
Uncovering the Challenges of Rare Diseases: Insights From a Retrospective Cross-Sectional Study in Albania (2005-2022).揭示罕见病的挑战：来自阿尔巴尼亚的一项回顾性横断面研究（2005 - 2022年）的见解
Cureus. 2024 Jan 11;16(1):e52091. doi: 10.7759/cureus.52091. eCollection 2024 Jan.
5
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.印度神经发育队列中单基因综合征伴智力障碍的新生变异。
Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20.
6
A rapid whole-genome sequencing service for infants with rare diseases in the United Arab Emirates.阿联酋为患有罕见疾病的婴儿提供的快速全基因组测序服务。
Nat Med. 2023 Dec;29(12):2979-2980. doi: 10.1038/s41591-023-02596-x.
7
Integrated multi-omics for rapid rare disease diagnosis on a national scale.基于一体化多组学的全国范围罕见病快速诊断
Nat Med. 2023 Jul;29(7):1681-1691. doi: 10.1038/s41591-023-02401-9. Epub 2023 Jun 8.
8
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.阿格斯：非同义单核苷酸变异的多层次可视化及用于遗传易感性评估的高级致病性评分建模
Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023.
本文引用的文献
1
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.一种用于遗传疾病可扩展诊断和急性管理指导的自动化 13.5 小时系统。
Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6.
2
PhenomeCentral: 7 years of rare disease matchmaking.表型中心：7 年罕见病匹配。
Hum Mutat. 2022 Jun;43(6):674-681. doi: 10.1002/humu.24348. Epub 2022 Feb 22.
3
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.重症监护环境下的超快速纳米孔基因组测序
N Engl J Med. 2022 Feb 17;386(7):700-702. doi: 10.1056/NEJMc2112090. Epub 2022 Jan 12.
4
Rapid whole-genome sequencing in critically Ill children: shifting from unease to evidence, education, and equitable implementation.危重症儿童的快速全基因组测序：从不安转向证据、教育及公平实施。
J Pediatr. 2021 Nov;238:343. doi: 10.1016/j.jpeds.2021.08.006. Epub 2021 Aug 11.
5
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.“熊宝宝计划”：在加利福尼亚的 5 家儿童医院中采用 rWGS（靶向全基因组测序）进行快速精准医疗，改善了临床结果并降低了医疗成本。
Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi: 10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4.
6
Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.基于快速测序的硫胺素代谢功能障碍综合征诊断
N Engl J Med. 2021 Jun 3;384(22):2159-2161. doi: 10.1056/NEJMc2100365.
7
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.一项针对重病婴儿的快速基因组测序的 RCT 研究结果显示其具有高度临床实用性，可改变治疗方法，且被认为造成的伤害较低。
Am J Hum Genet. 2020 Nov 5;107(5):942-952. doi: 10.1016/j.ajhg.2020.10.003.
8
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.患者定制型寡核苷酸疗法治疗罕见遗传病。
N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279. Epub 2019 Oct 9.
9
Towards a tricorder for diagnosing paediatric conditions.迈向用于诊断儿科疾病的三录仪。
Lancet. 2019 Sep 14;394(10202):907. doi: 10.1016/S0140-6736(19)32087-2.
10
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.利用快速全基因组测序和自动化表型分析及解读对重病患儿进行遗传疾病诊断。
Sci Transl Med. 2019 Apr 24;11(489). doi: 10.1126/scitranslmed.aat6177.
Zotero 插件