# ANALYSIS OF CUSHING DISEASE WHOLE EXOME SEQUENCING DATA 2020

> **NIH NIH N01** · UNIVERSITY OF MINNESOTA · 2020 · $280,861

## Abstract

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.

## Key facts

- **NIH application ID:** 10270238
- **Project number:** 275201800004I-0-759402000005-1
- **Recipient organization:** UNIVERSITY OF MINNESOTA
- **Principal Investigator:** MICHAEL TSAI
- **Activity code:** N01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $280,861
- **Award type:** —
- **Project period:** 2020-09-24 → 2023-09-23

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10270238

## Citation

> US National Institutes of Health, RePORTER application 10270238, ANALYSIS OF CUSHING DISEASE WHOLE EXOME SEQUENCING DATA 2020 (275201800004I-0-759402000005-1). Retrieved via AI Analytics 2026-05-26 from https://api.ai-analytics.org/grant/nih/10270238. Licensed CC0.

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