PROSPECTIVE HUNTINGTON AT-RISK OBSERVATIONAL STUDY (PHAROS)

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。亨廷顿病(HD)是一种成人起病、进行性致残和致命性神经退行性疾病。虽然主要基因缺陷已经确定，关于显性HD的知识已经积累，但对处于HD遗传风险的个体及其体征、症状、经历和态度的了解相对较少。亨廷顿风险前瞻性观察研究(PHAROS)是由亨廷顿研究小组于1999年发起的，目的是在不同的人群中描述和测量HD的临床发病情况，这些人都有遗传HD基因的直接风险。Pharos参与者包括30-55岁的健康成年人，他们没有接受过HD基因测试，希望保持对自己HD基因状态的不了解，但希望通过参与研究来为了解HD做出贡献。在一项隐藏遗传信息和保护机密性的严格安排下，从每个研究参与者那里获取血液样本，以测量HD基因的胞嘧啶-腺嘌呤-鸟嘌呤三核苷酸重复(CAGn)。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Huntington's disease (HD) is an adult-onset, progressively disabling and lethal neurodegenerative disorder. While the primary gene defect has been established and knowledge has been amassed about manifest HD, relatively little is know about the individuals who are at genetic risk for HD and their signs, symptoms, experiences and attitudes. The Prospective Huntington At Risk Observational Study (PHAROS) was initiated by the Huntington Study Group in 1999 to characterize and measure the clinical onset of HD in a diverse cohort of individuals who are at immediate risk for having inherited the HD gene. PHAROS participants include healthy adults, age 30-55 years, who have not undergone testing for the HD gene and who wish to remain unaware of their HD gene status, yet desire to contribute to knowledge about HD by participating in research. Under a stringent arrangement that conceals genetic information and protects confidentiality, a blood sample is obtained from each research participant to measure cytosine-adenine-guanine trinucleotide repeat (CAGn) of the HD gene.