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 Cushings disease (CD) and related abnormal laboratory, clinical and physical features. The ultimate goal is to identify a genetic variant or variants that cause CD. Cushings 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.

Agency
National Institute of Health (NIH)
Type
Station Support Contracts (N03)
Project #
275201300023I-0-27500003-1
Application #
8880507
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
2014
Total Cost
Indirect Cost
Name
University of Minnesota Twin Cities
Department
Type
DUNS #
City
Minneapolis
State
MN
Country
United States
Zip Code
55455