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Comorbid Disease in Women with Primary Ovarian Insufficiency

Award Number: R01HD099487
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/06/2019
PERIOD OF PERFORMANCE END DATE: 11/30/2029

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Comorbid Disease in Women with Primary Ovarian Insufficiency - Primary ovarian insufficiency (POI) is the most extreme form of infertility with loss of oocytes before the age of 40 years. We have made significant progress understanding the genetics of POI, with a candidate gene identified in 23-30% of women with POI after whole exome sequencing (WES). We demonstrated approximately 50% of gene variants are found in genes critical for DNA damage and repair and transcription/translation fidelity. These gene families are also implicated in cancer risk. Using genealogy information from the Utah Population Database (UPDB), we demonstrated that women with POI have increased relative risk for breast cancer, while their first-, second- and third-degree relatives have increased risk for breast, colon, and prostate cancer. We will use three generation families and additional validated cases of POI, gene identification decision support tools and functional models, along with replication cohorts to expand our studies for an in-depth examination of the relationship between POI and cancer risk. We will add clinical and basic science cancer and computational investigators and new artificial intelligence and genetic approaches to understand cancer risk in POI. Specific Aim 1 will identify additional cancer risk tracking with POI in affected women and their families using the UPDB and unique cancer clustering algorithms. Specific Aim 2 will identify genetic mutations in women with familial cancer risk through whole genome sequencing. We will use novel software (GEM) developed at the University of Utah to prioritize variants in familial POI and cancer. We will also examine de novo mutation rate as an additional mechanism for cancer risk in these women. Variants will be replicated in data from large biobanks and functionally assessed in our D. melanogaster functional model and a new DNA damage cell-based assay. Specific Aim 3 will combine genetic and demographic data from the UPDB with clinical data from the electronic medical record (EMR) in women with POI to create a cancer prediction and assessment tool. The portability of the tool will be tested in an outside health system. The work addresses fertility as a marker of overall health by examining the cause of increased cancer in diseases associated with decreased ovarian reserve, particularly in women with POI. Early identification of risk associated with a POI diagnosis will inform our recommendations for careful medical follow up and hormone replacement therapy in at-risk women.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $558,419 )
2026	2026	UNIVERSITY OF UTAH	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	001	7	3/30/2026	NON-COMPETING CONTINUATION	$55,842
2026	2026	UNIVERSITY OF UTAH	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	7	1/16/2026	NON-COMPETING CONTINUATION	$502,577
														Subtotal = $558,419

Issue Date FY: 2025 ( Subtotal = $558,419 )
2025	2025	UNIVERSITY OF UTAH	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	6	2/1/2025	COMPETING CONTINUATION	$558,419
														Subtotal = $558,419

Issue Date FY: 2024 ( Subtotal = $0 )
2024	2023	UNIVERSITY OF UTAH	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	5	8/28/2024	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2023 ( Subtotal = $317,581 )
2023	2023	UNIVERSITY OF UTAH	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	5	5/9/2023	NON-COMPETING CONTINUATION	$317,581
														Subtotal = $317,581

Issue Date FY: 2022 ( Subtotal = $317,581 )
2022	2022	UNIVERSITY OF UTAH, THE	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	4	5/23/2022	NON-COMPETING CONTINUATION	$317,581
														Subtotal = $317,581

Issue Date FY: 2021 ( Subtotal = $317,581 )
2021	2021	UNIVERSITY OF UTAH, THE	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	3	5/18/2021	NON-COMPETING CONTINUATION	$317,581
														Subtotal = $317,581

Issue Date FY: 2020 ( Subtotal = $324,063 )
2020	2020	UNIVERSITY OF UTAH, THE	201 PRESIDENTS CIR	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	2	5/14/2020	NON-COMPETING CONTINUATION	$324,063
														Subtotal = $324,063

Issue Date FY: 2019 ( Subtotal = $324,063 )
2019	2019	UNIVERSITY OF UTAH, THE	201 S PRESIDENT CIRCLE RM 408	SALT LAKE CITY	UT	84112	SALT LAKE	USA	Child Health and Human Development Extramural Research	000	1	9/6/2019	NEW	$324,063
														Subtotal = $324,063

Grand Total All Awards = $2,717,707

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Comorbid Disease in Women with Primary Ovarian Insufficiency

Award Number: R01HD099487

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 09/06/2019

PERIOD OF PERFORMANCE END DATE: 11/30/2029

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