IGF::OT::IGF HIGH THROUGHPUT GENOTYPING AND DNA SEQUENCING FOR STUDYING THE GENETIC CONTRIBUTIONS TO HUMAN HEALTH AND DISEASE

IGF::OT::IGF 高通量基因分型和 DNA 测序，用于研究遗传对人类健康和疾病的影响

• 批准号: 9581888
• 负责人: Kimberly F Doheny
• 金额: $ 14.38万
• 依托单位: JOHNS HOPKINS UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2017
• 资助国家: 美国
• 起止时间: 2017-08-30 至 2019-08-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9581888
• 关键词: Affect; Animals; Behavior Therapy; Candidate Disease Gene; Cleft Palate; Cleft lip with or without cleft palate; Congenital Abnormality; DNA sequencing; Defect; Dental; Disease; Etiology; Family; Funding; Genes; Genetic study; Genotype; Goals; Health; Human; Individual; Lead; Live Birth; Medical; Nutritional; Operative Surgical Procedures; Palate; Phenotype; Population; Protocols documentation; Public Health; Research; Risk; Speech; Study Subject; base; exome sequencing; follow-up; genetic variant; genome wide association study; health economics; orofacial cleft

: Nonsyndromic orofacial clefts (OFCs) of the lip with or without cleft palate (CL/P) or of the palate only (CPO) comprise a significant proportion of human birth defects (about 1/700 live births worldwide) requiring surgical, nutritional, dental, speech, medical and behavioral interventions and thus impose substantial public health, economic, and personal burdens. During the previous funding periods of this project, we achieved all our delineated goals and unequivocally established a rich phenotyping paradigm that our research group has developed over the last decade. Our phenotyping protocol can help define mechanisms that lead to OFCs and more precisely predict individual risks for these defects. Subclinical expressions of OFC (e.g., subtle speech abnormalities) that are distributed within affected families can reveal clues about etiology. Numerous genes/loci have now been identified for overt OFC, based largely on genome-wide association studies resulting from the current funding period.

唇非综合征性口面裂（OFC）伴或不伴腭裂（CL/P）或仅腭裂（CPO）占人类出生缺陷的很大比例（全世界约1/700活产），需要手术、营养、牙科、言语、医疗和行为干预，因此造成巨大的公共卫生、经济和个人负担。在该项目的前几个资助期内，我们实现了所有划定的目标，并明确建立了我们的研究小组在过去十年中开发的丰富的表型范式。我们的表型分析方案可以帮助定义导致OFC的机制，并更精确地预测这些缺陷的个体风险。OFC的亚临床表达（例如，微妙的语言异常），分布在受影响的家庭可以揭示病因的线索。许多基因/位点现已被确定为显性OFC，主要是基于全基因组关联研究，从目前的资助期。