GENETIC STUDIES OF PATIENTS AND THEIR FAMILIES WITH DISORDERS OF EYE AND EYELID

眼睛和眼睑疾病患者及其家属的遗传学研究

• 批准号: 7380761
• 负责人: Elizabeth C. Engle
• 金额: $ 2.07万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2006
• 资助国家: 美国
• 起止时间: 2006-04-01 至 2007-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7380761
• 关键词: GENETIC; STUDIES; PATIENTS; THEIR; FAMILIES

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. This protocol is designed to continue our research to understand the pathophysiology of congenital disorders of eye and lid movement by elucidating the genetic causes of strabismus and ptosis. The objectives of our research are to 1) identify genetic loci and gene mutations responsible for forms of human congenital strabismus and ptosis, 2) correlate thes genetic loci and specific mutations with clinical phenotypes, 3) correlate these mutations with specific anatomic changes in the brainstem and/or extraocular muscle of affected participants, 4) determine the role of each mutated gene in normal and abnormal development.

该子项目是利用 NIH/NCRR 资助的中心拨款提供的资源的众多研究子项目之一。子项目和研究者 (PI) 可能已从另一个 NIH 来源获得主要资金，因此可以在其他 CRISP 条目中出现。列出的机构是中心的机构，不一定是研究者的机构。该协议旨在继续我们的研究，通过阐明斜视和上睑下垂的遗传原因来了解先天性眼睛和眼睑运动障碍的病理生理学。我们研究的目标是 1) 确定导致人类先天性斜视和上睑下垂的遗传位点和基因突变，2) 将这些遗传位点和特定突变与临床表型相关联，3) 将这些突变与脑干的特定解剖学变化相关联和/或受影响参与者的眼外肌，4) 确定每个突变基因在正常和异常发育中的作用。