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Integration of genetic association mapping and functional data to elucidate genetic mechanisms of disease

Award Number: R01HG008140
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 06/23/2016
PERIOD OF PERFORMANCE END DATE: 07/31/2030

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Integration of genetic association mapping and functional data to elucidate genetic mechanisms of disease - Abstract One central goal of human genetics is to determine the key genes and molecular pathways that drive disease. By doing so, we can hope to gain deeper insight into the molecular basis of disease, as well as to identify potential targets for therapeutic intervention. While there has been great progress in using GWAS and rare variant associations to identify genes that are associated with disease risk, we still have limited tools for studying the molecular pathways through which these genes act. In this grant, we propose high throughput approaches for inferring causal pathways of effects from disease-associated genes via gene regulatory networks and cell states to disease risk. Speciﬁcally, we propose the following: new techniques for causal inference using rare variant burden testing coupled with Perturb-seq; genome-scale Perturb-seq experiments in ex vivo T cells to enable applications to eosinophil counts, allergy and autoimmune disease; and extensions to single cell RNA-seq from patients. By the end of this project we aim to have established new high-throughput approaches for modeling molecular pathways of disease. Ultimately this goal could contribute to new treatments for asthma and other immune-related chronic diseases.


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 = $860,344 )
2026	2026	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	9	8/11/2026	COMPETING CONTINUATION	$860,344
														Subtotal = $860,344

Issue Date FY: 2025 ( Subtotal = -$79,288 )
2025	2024	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	8	6/25/2025	NON-COMPETING CONTINUATION	-$79,288
														Subtotal = -$79,288

Issue Date FY: 2024 ( Subtotal = $698,775 )
2024	2024	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	8	3/29/2024	NON-COMPETING CONTINUATION	$641,731
2024	2024	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	001	8	5/29/2024	NON-COMPETING CONTINUATION	$57,044
														Subtotal = $698,775

Issue Date FY: 2023 ( Subtotal = $712,928 )
2023	2023	THE LELAND STANFORD JUNIOR UNIVERSITY	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	7	4/3/2023	NON-COMPETING CONTINUATION	$712,928
														Subtotal = $712,928

Issue Date FY: 2022 ( Subtotal = $706,309 )
2022	2022	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	6	4/21/2022	NON-COMPETING CONTINUATION	$706,309
														Subtotal = $706,309

Issue Date FY: 2021 ( Subtotal = $695,858 )
2021	2021	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	5	3/11/2021	NON-COMPETING CONTINUATION	$695,858
														Subtotal = $695,858

Issue Date FY: 2020 ( Subtotal = $698,013 )
2020	2020	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	002	4	8/31/2020	COMPETING CONTINUATION	$79,288
2020	2020	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	4	5/13/2020	COMPETING CONTINUATION	$698,013
2020	2018	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 JANE STANFORD WAY	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	001	3	8/31/2020	SUPPLEMENT FOR EXPANSION	-$79,288
														Subtotal = $698,013

Issue Date FY: 2018 ( Subtotal = $1,249,658 )
2018	2018	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 SERRA MALL	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	001	3	9/21/2018	SUPPLEMENT FOR EXPANSION	$507,310
2018	2018	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 SERRA MALL	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	3	5/18/2018	NON-COMPETING CONTINUATION	$742,348
														Subtotal = $1,249,658

Issue Date FY: 2017 ( Subtotal = $859,454 )
2017	2017	LELAND STANFORD JUNIOR UNIVERSITY, THE	450 SERRA MALL	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	2	5/26/2017	NON-COMPETING CONTINUATION	$859,454
														Subtotal = $859,454

Issue Date FY: 2016 ( Subtotal = $864,092 )
2016	2016	STANFORD UNIVERSITY	651 SERRA STREET, ROOM 110	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	000	1	6/23/2016	NEW	$786,200
2016	2016	STANFORD UNIVERSITY	651 SERRA STREET, ROOM 110	STANFORD	CA	94305	SANTA CLARA	USA	Human Genome Research	001	1	9/27/2016	SUPPLEMENT FOR EXPANSION	$77,892
														Subtotal = $864,092

Grand Total All Awards = $7,266,143

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Integration of genetic association mapping and functional data to elucidate genetic mechanisms of disease

Award Number: R01HG008140

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 06/23/2016

PERIOD OF PERFORMANCE END DATE: 07/31/2030

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