ANALYSIS OF CUSHING DISEASE WHOLE EXOME SEQUENCING DATA 2020

库欣病（CD）是一种脑垂体产生不适当水平的 促肾上腺皮质激素（ACTH）。 ACTH刺激肾上腺产生过量的皮质醇， 导致临床疾病。CD通常由分泌ACTH的垂体瘤引起。是 值得注意的是，患有CD的患者也具有异常特征，包括异常的面部高度 和鼻子长度。 源于我们在CD的工作，我们对其他垂体产生了兴趣。 和内分泌条件，其需要与下文所示CD相同的工作。 这 合作已经非常成功地产生了重要的发现，现在发表在 医学文献 校内人口健康研究部（DIPHR）和校内 研究人员一直在合作寻找与CD相关的遗传变异， 全外显子组测序（WES）。 WES是一种高效、经济的方法， 负责编码蛋白质的遗传密码。 随着WES技术在库欣病研究中的应用， 生成用于分析。 这项工作富有成效，使第6号报告得以出版。 这方面的论文至今。随着这项研究中发现的大量变异， 超出了最初的预期，与对照组相比，我们继续加强搜索 拷贝数变异。 该任务订单将继续通过分析CD上的WES数据来扩展我们对CD的了解， 其他病例与NIH临床中心的Constantine Stratakis博士合作。 案件将 从具有最佳相关临床和实验室数据的患者中选择。

Cushing's disease (CD) is a condition in which the pituitary gland produces inappropriate levels of adrenocorticotropic hormone (ACTH). ACTH stimulates the adrenal gland to produce excess cortisol, leading to clinical disease. CD is commonly caused by ACTH secreting pituitary tumors. It is noteworthy that patients who have CD also have abnormal features including abnormal facial height and nasal length. Stemming from our work in CD, we have developed an interest in other pituitary and endocrine conditions which requires the same work as indicated for CD below. This collaboration has been very successful in producing important discoveries now published in the medical literature. The Division of Intramural Population Health Research (DIPHR) and the Division of Intramural Research (DIR) have been collaborating in the search for genetic variants associated with CD via whole exome sequencing (WES). WES is an efficient, cost effective method to interrogate the genetic code responsible for coding proteins. With the use of WES technology in the studying of the Cushing disease a large amount of data was generated for analysis. The work has been highly productive and made possible the publication of 6 papers to date in this area. With the large number of variants discovered in this study far exceeding the original expectation and comparison to controls, we continue to enhance our search for copy number variants. This task order will continue to expand our knowledge of CD by analyzing the WES data on CD and other cases in collaboration with Dr. Constantine Stratakis at the NIH clinical center. Cases will be selected from those with the best associated clinical and laboratory data.