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Tools and Data for Bayesian Modeling of Mitochondrial Genome Dynamics in Human Disease

Award Number: R01LM013067
ORGANIZATION: NATIONAL LIBRARY OF MEDICINE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 05/01/2020
PERIOD OF PERFORMANCE END DATE: 02/28/2026

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Tools and Data for Bayesian Modeling of Mitochondrial Genome Dynamics in Human Disease - Modern biotechnologies have revolutionized human genomics, allowing researchers to query across the ~3.2 billion nucleotide base positions that form the human genome. The ability to detect genetic variants in a high- throughput manner has revealed specific alleles that contribute to human phenotypic variation, including those associated with disease risk. However, the vast majority of studies have focus exclusively on the portion of the genome located in the nucleus. Largely ignored is the DNA contained in the cell's mitochondria (mtDNA), which harbors the genes encoding proteins that are responsible for generating most of the cell's energy. Importantly, the large and variable numbers of mitochondrial chromosome copies per cell can result in an mtDNA variant co- existing with a wild-type allele, a condition known as heteroplasmy. The variant's heteroplasmy level can shift dramatically across generations, as well as spatially/temporally within the same individual. With new data sources, it is possible for the first time to develop highly accurate models of the processes underlying mitochondrial genome dynamics. Since these processes have hierarchical aspects, Bayesian hierarchical modeling is an ideal framework within which to develop such models. Given this, we propose to pursue the following three Specific Aims: 1) Develop a flexible Bayesian modeling framework to capture mtDNA dynamics; 2) Apply the framework to large data sets from a variety of clinically- relevant settings; and 3) Comprehensive model testing, experimental validation, and implementation. Mitochondrial DNA mutations have been implicated in disease phenotypes including diabetes, autism, encephalomyopathies, stroke, vision loss, cancer, and many others. As additional relevant data become available, further elucidation of the impact of mtDNA variation on complex phenotypes is possible. Such insights are likely to lead to important discoveries in genetics as well as medical applications. This project will facilitate advances by providing reliable computational infrastructure for efficient and accurate modeling of mtDNA mutational dynamics. The resulting software will be implemented and disseminated in the free and portable statistical computing platform R.


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: 2025 ( Subtotal = $0 )
2025	2024	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	000	5	3/3/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $342,124 )
2024	2024	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	001	5	5/1/2024	NON-COMPETING CONTINUATION	$34,212
2024	2024	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	000	5	2/16/2024	NON-COMPETING CONTINUATION	$307,912
														Subtotal = $342,124

Issue Date FY: 2023 ( Subtotal = $79,429 )
2023	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	000	4	3/1/2023	NON-COMPETING CONTINUATION	$1
2023	2023	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	001	4	3/2/2023	SUPPLEMENT FOR EXPANSION	$79,428
														Subtotal = $79,429

Issue Date FY: 2022 ( Subtotal = $421,553 )
2022	2022	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	000	3	2/3/2022	NON-COMPETING CONTINUATION	$342,125
2022	2022	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	001	3	2/7/2022	SUPPLEMENT FOR EXPANSION	$79,428
														Subtotal = $421,553

Issue Date FY: 2021 ( Subtotal = $342,125 )
2021	2021	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	000	2	1/29/2021	NON-COMPETING CONTINUATION	$307,912
2021	2021	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	001	2	2/22/2021	NON-COMPETING CONTINUATION	$17,106
2021	2021	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	002	2	4/28/2021	NON-COMPETING CONTINUATION	$17,107
														Subtotal = $342,125

Issue Date FY: 2020 ( Subtotal = $341,771 )
2020	2020	CASE WESTERN RESERVE UNIVERSITY	10900 EUCLID AVE	CLEVELAND	OH	44106	CUYAHOGA	USA	Medical Library Assistance	000	1	4/29/2020	NEW	$341,771
														Subtotal = $341,771

Grand Total All Awards = $1,527,002

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Tools and Data for Bayesian Modeling of Mitochondrial Genome Dynamics in Human Disease

Award Number: R01LM013067

ORGANIZATION: NATIONAL LIBRARY OF MEDICINE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 05/01/2020

PERIOD OF PERFORMANCE END DATE: 02/28/2026

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