Rare Diseases and Scientific Inquiry;
罕见疾病和科学探索；
There is no single, widely accepted definition for rare diseases.
目前仍然没有一个统一，并且被广泛接受的关于罕见病的定义。
However, there are some rare diseases, which not many people realize.
然而，有一些罕见的疾病却没多少人知道。
Genzyme is a biotechnology company that produces enzymes for treating rare diseases.
Genzyme是一家生物技术公司，它生产的酶用于治疗罕见疾病。
The National Organization for rare Disorders was established in 1983 by individuals and families with rare diseases.
国家罕见病组织由个人和有罕见病患者的家庭一同在1983年建立[11][12]。
A statistical method for testing efficacy of treatment in individual patient with chronic or rare diseases is worked out.
作者对慢性病、罕见病单个病例的临床治疗试验提出了一种统计检验方法。
The rise of social networking has made it easier for people with rare diseases to connect with each other and feel less alone.
社交网络的普及使得患有罕见疾病的人可以相互联系，不那么孤独。
Of course, if you follow millions of people who aren't taking any drugs, some of them are going to come down with rare diseases, too.
当然，如果追踪调查不服任何药物的百万人群，也会发现有些人出现比较罕见的疾病。
More occurred in about 50 years old in the elderly, frozen shoulder is a kind of shoulder pain as the main feature of the rare diseases.
多发生于50 岁左右的中老年人，肩周炎是一种以肩痛为主要特征的罕见病。
Make knowledge of rare diseases accessible to public, enhance their understanding of rare disease communities, host and promote Rare Disease Day activities in China.
普及罕见病相关知识，加强社会公众对罕见病群体的了解，举办和推广国际罕见病日（中国）倡导活动。
The event is not only almost luxury dining - Euro100 (US$146) for every customer works to France's Federation of Rare Diseases, which funds research into unknown ailments.
这次活动不仅仅是一次饕餮盛宴，每位顾客所付餐费中的100欧元（合146美元）将捐给法国“罕见疾病联合会”，该联合会为罕见疾病的研究提供资金支持。
The burden of Marburg and other rare diseases is small, says Cathy Roth of the WHO, but their destructive potential drags resources from the fight against AIDS, tuberculosis and malaria.
世界卫生组织的卡茜•罗斯（Cathy Roth）讲道，马尔堡病毒与其它疾病给非洲国家并没有带来多大的负担，但是该病毒的潜在致命性却让这些国家将治疗艾滋病、肺结核与疟疾的各种资源进行了转移。
Provide the latest and most comprehensive news of rare diseases in medicine, research, policy, social and governmental activities. At the same time, create and improve a patient database.
为相关方提供罕见病领域最新、最全面的医药、研究、社会活动、政策等各个方面的信息，同时建立和完善国内患者数据库。
BALF can rarely be taken for diagnosis in etiology, but its predictive value makes the possibility for diagnosis of rare diseases, and at the same time it can exclude the tumor and infection.
虽然BALF很少能确诊病因，但其预测价值使很多少见病的诊断成为可能，同时可排除感染和肿瘤。
Rare diseases can vary in prevalence between populations, so a disease that is rare in some populations may be common in others. This is especially true of genetic diseases and infectious diseases.
罕见病在不同的人群中的流行性差异很大，某种疾病在一个人群中很罕见，在另一个人群中可能就很常见了，这就是流行性疾病和遗传性疾病之间的差异所在。
AAA is one of the rare vascular diseases where tissue samples are removed as part of patient therapy.
AAA是一种罕见的血管疾病，需要取出组织样本作为病人疗程的一部分。
Their diseases are too rare or obscure for the regular helping organizations.
对于常规的救助机构而言，他们的疾病实在罕见，实在太难救助了。
The couple started the nonprofit Rothberg Institute for Childhood Diseases, which works on treatments for tuberous sclerosis, a rare disease that affects one of their children.
这对夫妻开始为儿童疾病，对结节性硬化症，一种罕见的疾病，影响一个孩子的非盈利rothberg处理工程研究所。
Ten are for rare or “orphan” diseases, which frequently lack any therapy because of the small number of patients with the condition, such as a treatment for hereditary angioedema;
十种药是为罕见或“孤儿”病，因为患者少的情况经常缺乏任何治疗，例如遗传性血管水肿治疗。
The undiscovered share of genetic risk for common diseases, he said, probably lies not with rare variants, as suggested by Dr. Goldstein, but in unexpected biological mechanisms.
他说，常见疾病的未发现遗传风险可能如Goldstein博士所提出的，不在于罕见变异，而在于意想不到的生物机制。
Both diseases are rare, but have a capacity to cause dramatic outbreaks with high fatality.
这两种疾病极为罕见，但有引起剧烈暴发的潜力，且病死率很高。
As a result, diseases caused by nutrient deficiency are rare in the United States.
因此在美国由营养缺乏引起的疾病很少。
Diseases now rare in the United States are still common elsewhere, and they are just a plane ride away.
目前在美国罕见的疾病在其他地方还是常见，而且这些疾病离我们只有一次飞行的距离那么远。
A major question in the field of many chronic diseases has been whether the risk of developing a disease is more closely linked to common or rare mutations.
许多慢性病的主要问题在于发病风险与普通突变密切相关还是与罕见突变密切相关。
They conclude that single patient trials can be a logical approach to identifying potentially beneficial drugs, especially in the case of rare or orphan diseases.
他们认为通过对单个病人的试验能够有逻辑性的辨识药物的潜在益处，尤其在稀有罕见病例中。
Relapsing polychondritis is a rare inflammatory autoimmune diseases damaging, characterized by inflammatory destruction of cartilage with repeated attack and remission of disease progression.
复发性软骨炎是较少见的炎性破坏性自身免疫病其特点是软骨组织炎性破坏呈反复发作和缓解的进展性病变。
Relapsing polychondritis is a rare inflammatory autoimmune diseases damaging, characterized by inflammatory destruction of cartilage with repeated attack and remission of disease progression.
复发性软骨炎是较少见的炎性破坏性自身免疫病其特点是软骨组织炎性破坏呈反复发作和缓解的进展性病变。
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