Genotyping for Studying the Genetic Contributions to Human Disease

用于研究遗传对人类疾病的贡献的基因分型

• 批准号: 7941280
• 负责人: DAVID VALLE
• 金额: $ 1125.55万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-06-01 至 2012-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7941280
• 关键词: Genotyping; Studying; Genetic; Contributions; Human

The CIDR program is dedicated to providing high quality, high throughput genotyping in support of efforts to locate and identify genes responsible for human disease. The identification of the locations of genes that predispose or are responsible for a variety of human diseases will greatly benefit the programs of the National Human Genome Research Institute and the National Institutes of Health. When the chromosomal localizations of genes contributing to such diseases are in hand, the genes likely to be involved can be identified and the functioning of their gene products in normal and disease states can be studied. New DNA-based diagnostic methods can be developed. Ultimately, identification of the genes can illuminate the biochemical and physiological pathways that have become deranged in these disorders and thus provide insights that may be crucial to developing both preventive and therapeutic interventions, thereby improving the public health. The purpose of this acquisition is to provide high quality, high throughput human and mouse genotyping services and statistical genetics expertise dedicated towards finding the genetic basis for disease in support of extramural and intramural research programs supported by the thirteen participating Institutes.

CIDR计划致力于提供高质量的高通量基因分型，以支持定位和识别负责人类疾病的基因的努力。鉴定易感或负责各种人类疾病的基因位置将极大地使国家人类基因组研究所和国立卫生研究院的计划受益。当手头促成此类疾病的基因的染色体局部定位时，可以鉴定出可能涉及的基因，并且可以研究其基因产物在正常和疾病状态中的功能。可以开发新的基于DNA的诊断方法。最终，对基因的识别可以阐明在这些疾病中危险的生化和生理途径，因此提供了可能对发展预防和治疗性干预至关重要的见解，从而改善了公共卫生。 此次收购的目的是提供高质量的，高通量的人类和小鼠基因分型服务以及统计遗传学专业知识，致力于寻找疾病的遗传基础，以支持13个参与机构支持的壁外和壁内研究计划。