PROSPECTIVE HUNTINGTON AT-RISK OBSERVATIONAL STUDY (PHAROS)

本子项目是利用由NIH/NCRR资助的中心赠款提供的资源的众多研究子项目之一。子项目和研究者（PI）可能已经从另一个NIH来源获得了主要资金，因此可以在其他CRISP条目中表示。列出的机构是中心的，不一定是研究者的机构。亨廷顿氏病（HD）是一种成人发病，逐渐致残和致命的神经退行性疾病。虽然已经确定了主要的基因缺陷，并且已经积累了关于显性HD的知识，但对于具有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。前瞻性亨廷顿舞蹈症风险观察研究（PHAROS）是由亨廷顿舞蹈症研究小组于1999年发起的，目的是在具有遗传亨廷顿舞蹈症基因的直接风险的不同人群中描述和测量亨廷顿舞蹈症的临床发病。PHAROS的参与者包括30-55岁的健康成年人，他们没有接受过HD基因检测，希望不知道自己的HD基因状态，但希望通过参与研究来了解HD。在严格保密遗传信息的安排下，每位研究参与者采集血样，检测HD基因的胞嘧啶-腺嘌呤-鸟嘌呤三核苷酸重复序列（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.