Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.
Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.
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DOI：
10.1111/cts.12501
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发表时间：
2018-01
期刊：
影响因子：
--
通讯作者：
International Rare Diseases Research Consortium (IRDiRC)
中科院分区：
文献类型：
--
作者：
Dawkins HJS;Draghia-Akli R;Lasko P;Lau LPL;Jonker AH;Cutillo CM;Rath A;Boycott KM;Baynam G;Lochmüller H;Kaufmann P;Le Cam Y;Hivert V;Austin CP;International Rare Diseases Research Consortium (IRDiRC)
根据定义，罕见疾病是影响少数人的疾病。将某种疾病指定为罕见疾病的患病率阈值在不同国家有所不同。一般来说，患病率低于万分之五的疾病被认为是罕见的。 1 许多罕见疾病在全世界范围内影响的人数要少得多，有些只有一个确诊病例，而另一些则有数十人到数百人。 2 然而，总的来说，它们很常见。有 6,000-8,000 种罕见疾病，每年有 250-280 种新疾病被描述，影响了估计 6-8% 的人口。 3-6 这些疾病的罕见性给受影响的患者、他们的家人以及试图实现确诊和实施最佳护理的临床医生带来了巨大的挑战。 7, 8 获得正确的诊断通常是一个困难而漫长的过程，因为医生和护理人员往往缺乏对他们很少遇到的疾病的适当专业知识。 4 大多数此类疾病缺乏有效的治疗方法，即使存在，由于科学和制造方面的挑战以及此类产品的潜在市场较小，它们往往非常昂贵；这造成了通常难以解决的准入障碍。 3 罕见病是慢性病，通常会造成严重残疾，因此治疗这些患者会给医疗预算带来沉重负担。例如，西澳大利亚州最近的一项研究得出结论，2010 年，该州受 467 种罕见疾病影响的人口占总人口的 2%，但占住院费用的 10.5%。 9 因此，改进诊断和有针对性的治疗，使这些患者保持健康并减少他们在医疗机构的时间将非常有益。许多罕见疾病与常见疾病相似，涉及相同的遗传途径，但其表现通常更具侵袭性或更严重。因此，提高对这些疾病的了解可能有助于改善或开发针对更常见疾病的诊断和治疗方法。
Rare diseases by definition are conditions that affect small numbers of people. The prevalence threshold that designates a disease as rare varies in different countries. Generally, diseases with prevalence fewer than 5 in 10,000 people are considered rare. 1 Many rare diseases affect far fewer people worldwide, with some having a single identified case and others with cases numbering from tens to low hundreds of people. 2 However, collectively, they are common. There are 6,000–8,000 rare diseases, with 250–280 new diseases described annually, affecting an estimated 6–8% of the human population. 3–6 The rarity of these diseases individually creates significant challenges for affected patients, their families, and for clinicians attempting to achieve a confirmed diagnosis and implement best care. 7, 8 Obtaining a correct diagnosis is frequently a difficult and lengthy process, as physicians and caregivers often lack appropriate expertise in a disease that they rarely encounter. 4 Effective therapeutics are lacking for the large majority of these diseases, and when they exist, they are often very expensive because of scientific and manufacturing challenges, and small potential markets for such products; this creates barriers to access that are frequently difficult to resolve. 3 Rare diseases are chronic and often severely disabling, thus treating these patients places a substantial burden on healthcare budgets. For example, one recent study from Western Australia concluded that in 2010 the state population affected by a limited cohort of only 467 rare diseases represented 2% of the population but 10.5% of in-patient hospital costs. 9 Therefore, improved diagnostics and targeted therapeutics that keep these patients healthier and reduce their time in medical facilities would be highly beneficial. Many rare diseases resemble common ones and involve the same genetic pathways, but are generally more aggressive or severe in their presentation. Improved understanding of these diseases may therefore be relevant to improving or developing diagnostics and therapeutics for their more common counterparts.
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“ IRDIRC认可资源”：一种新机制，旨在支持科学家对罕见疾病进行高效，高质量的研究。
DOI：
10.1038/ejhg.2016.137
发表时间：
2017-02
期刊：
European journal of human genetics : EJHG
影响因子：
--
作者：
Lochmüller H;Le Cam Y;Jonker AH;Lau LP;Baynam G;Kaufmann P;Lasko P;Dawkins HJ;Austin CP;Boycott KM
通讯作者：
Boycott KM
DOI：
10.1126/science.aaf6162
发表时间：
2016-06-10
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
通讯作者：
--
影响因子：
120.1
作者：
Braun, M. Miles;Farag-El-Massah, Sheiren;Cote, Timothy R.
通讯作者：
Cote, Timothy R.
影响因子：
9.8
作者：
Boycott KM;Rath A;Chong JX;Hartley T;Alkuraya FS;Baynam G;Brookes AJ;Brudno M;Carracedo A;den Dunnen JT;Dyke SOM;Estivill X;Goldblatt J;Gonthier C;Groft SC;Gut I;Hamosh A;Hieter P;Höhn S;Hurles ME;Kaufmann P;Knoppers BM;Krischer JP;Macek M Jr;Matthijs G;Olry A;Parker S;Paschall J;Philippakis AA;Rehm HL;Robinson PN;Sham PC;Stefanov R;Taruscio D;Unni D;Vanstone MR;Zhang F;Brunner H;Bamshad MJ;Lochmüller H
通讯作者：
Lochmüller H
影响因子：
3.9
作者：
Rath, Ana;Olry, Annie;Ayme, Segolene
通讯作者：
Ayme, Segolene