CUSHING DISEASE WHOLE EXOME SEQUENCING STUDY

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The purpose of this task order is to use whole exome sequencing (WES) with appropriate follow up by our co-investigators to identify important genetic factors associated with Cushing’s disease (CD) and related abnormal laboratory, clinical and physical features. The ultimate goal is to identify a genetic variant or variants that cause CD. Cushing’s disease (CD) is a condition in which the pituitary gland produces inappropriately high levels of adrenocorticotropic hormone (ACTH). The ACTH stimulates the adrenal gland to produce excess cortisol, leading to clinical disease. CD is caused by ACTH secreting pituitary tumors. It is noteworthy that patients who have CD also have abnormal features: abnormal facial features including abnormal facial height and nasal length.