NIH INTERINSTITUTE MEDICAL GENETICS PROGRAM--THE GENETICS CLINIC

NIH 研究所间医学遗传学项目--遗传学诊所

• 批准号: 3777619
• 负责人: M I KAISER-KUPFER
• 金额: --
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3777619
• 关键词: congenital vision disorder; eye disorder diagnosis; genetic disorder; genetic disorder diagnosis; health care referral /consultation; human subject; patient /disease registry

The Interinstitute Genetics Program and the Genetics Clinic supported by the Clinical Center offer a multidisciplinary approach to patients with genetic disease (ZO1 CP 05139-06 CEB). Involved in the program are researchers from all Institutes. Patients evaluated in the clinic represent a broad spectrum of genetic diseases. During the past year, approximately 200 persons seen represented about 60 distinct disease categories. Due to the high frequency of ocular involvement in many of the cases, almost all the patients were evaluated by Clinical Branch staff or were discussed in consultation. The clinic serves as a source of interesting case material concerning patients with inherited or developmental abnormalities of the visual system.

研究所间遗传学计划和遗传学诊所的支持， 临床中心为患有以下疾病的患者提供多学科方法 遗传病（ZO 1 CP 05139-06 CEB）。参与该计划的有 所有研究所的研究人员。在诊所接受评价的患者 代表了一系列广泛的遗传疾病。 在过去的一年里， 大约200人被观察到代表大约60种不同的疾病 类别由于许多患者的眼部受累频率很高， 例，几乎所有患者均由临床分支工作人员或 在协商中讨论。 该诊所作为一个来源， 关于遗传性或 视觉系统的发育异常。