Groft S C, Rubinstein Y R
Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Md., USA.
Public Health Genomics. 2013;16(6):259-67. doi: 10.1159/000355929. Epub 2014 Feb 3.
Research emphasis on rare diseases and orphan products remains a major focus of the research Institutes and Centers of National Institutes of Health (NIH). NIH provides more than USD 31 billion annually in biomedical research and research support. This research is the basis of many of the health advances in rare and common diseases. Numerous efforts and a major emphasis by the public and private sector initiatives have resulted in an increase of interventions and diagnostics for rare diseases. Newer translational research programs provide a more systematic and coordinated approach to rare diseases research and orphan products development. The approach that is offered requires extensive public-private partnerships with the pharmaceutical industry, contract research organizations, philanthropic foundations, medical and scientific advisory boards, patient advocacy groups, the academic research community, research and regulatory scientists, government funding agencies, and the public. Each program is unique and requires lengthy planning and collaborative efforts to reach programmatic goals.
对罕见病和孤儿产品的研究重点仍然是美国国立卫生研究院（NIH）各研究所和中心的主要关注点。NIH每年提供超过310亿美元用于生物医学研究及研究支持。这项研究是许多罕见病和常见疾病健康进展的基础。公共和私营部门举措的大量努力及重点投入，已带来了针对罕见病的干预措施和诊断方法的增加。更新的转化研究项目为罕见病研究和孤儿产品开发提供了更系统、更协调的方法。所提供的方法需要与制药行业、合同研究组织、慈善基金会、医学和科学咨询委员会、患者权益倡导团体、学术研究界、研究和监管科学家、政府资助机构及公众建立广泛的公私合作伙伴关系。每个项目都是独特的，需要进行长期规划并共同努力才能实现项目目标。
