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Genetic Control of Cardiac Development: Congenital Heart Disease Gene Discovery in Drosophila

Award Number: R01HL054732
ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 08/01/1995
PERIOD OF PERFORMANCE END DATE: 06/30/2025

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Genetic Control of Cardiac Development: Congenital Heart Disease Gene Discovery in Drosophila - PROJECT SUMMARY Congenital heart defects/diseases (CHDs) are the most common developmental anomalies and are the leading non-infectious causes of mortality in newborns, underscoring the importance of studying the underlying causes. The main genetic contributors are known for only 10-15% of CHD patients, thus hundreds more have yet to be discovered. It is our goal to systematically elucidate the genetic basis of CHDs. This is particularly challenging in mammalian models due to their genetic complexity and the often oligogenic nature of CHDs. We and others have originally defined a first set of ‘cardiogenic’ genes in Drosophila that specify the heart (e.g. tinman/Nkx2-5). These insights served as a prototype for elucidating fundamentally conserved mechanisms of cardiac development throughout the animal kingdom (~80% of human disease genes have fly orthologs). Over the past grant cycle, our lab made considerable progress in elucidating the molecular-genetic basis of heart development, establishment of heart function and importantly of CHD gene discovery and combinatorial assessment of candidate gene functions. With our new high-throughput multidisciplinary platforms, we have the unprecedented, but much needed ability to functionally and in-depth evaluate a multitude of candidate genes from whole genome sequencing (WGS) data, also patient-specifically, to begin to create comprehensive cardiogenic gene regulatory networks (GRNs) in health and disease. In this application, we propose to create and functionally test in high-throughput comprehensive GRNs of cardiogenesis, initially based on single cell gene expression profiles (by scRNAseq) of cardioblasts (CBs) sorted from wildtype Drosophila embryos, as well as from mutant hearts for core cardiogenic transcription factors (cTFs), such as tinman. In a complementary approach, we will evaluate patient-specific sets of human CHD gene candidates, identified and bioinformatically prioritized from WGS by our collaborators, by testing them in our in vivo Drosophila heart model, in human iPSC-derived cardiomyocytes (hiPSC-CM), with validation in zebrafish, followed by integration in the emerging GRNs. In Aim 1, we propose to conduct genetic interaction studies of cTFs with prioritized gene sets based on scRNAseq profiles of FACS-sorted CBs from wildtype vs. mutant Drosophila embryos, with the goal to construct and refine cardiogenic GRNs. In Aim 2, we propose to identify, test and network new, potentially causal CHD genes and their mechanisms, focusing on ribosomal protein gene RpL13 and mitochondrial MICOS complex genes. It is our goal to harness the power of the (evolutionarily conserved) Drosophila heart (with validation in hiPSC-CM and zebrafish) for new gene/pathway discovery to generate integrated GRNs for CHD, as a basis for the development of diagnostic tools and therapeutic interventions.


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 = $0 )
2026	2024	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 N TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	27	12/30/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $822,148 )
2024	2024	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 N TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	27	6/26/2024	NON-COMPETING CONTINUATION	$822,148
														Subtotal = $822,148

Issue Date FY: 2023 ( Subtotal = $838,927 )
2023	2023	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 N TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	26	7/7/2023	NON-COMPETING CONTINUATION	$838,927
														Subtotal = $838,927

Issue Date FY: 2022 ( Subtotal = $838,927 )
2022	2022	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	25	8/22/2022	NON-COMPETING CONTINUATION	$838,927
														Subtotal = $838,927

Issue Date FY: 2021 ( Subtotal = $838,927 )
2021	2021	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	002	24	6/15/2021	COMPETING CONTINUATION	$2,207
2021	2021	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	24	6/11/2021	COMPETING CONTINUATION	$838,927
2021	2019	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	23	6/15/2021	NON-COMPETING CONTINUATION	-$2,207
														Subtotal = $838,927

Issue Date FY: 2019 ( Subtotal = $487,500 )
2019	2019	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	23	7/20/2019	NON-COMPETING CONTINUATION	$487,500
														Subtotal = $487,500

Issue Date FY: 2018 ( Subtotal = $487,500 )
2018	2018	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	22	6/13/2018	NON-COMPETING CONTINUATION	$487,500
														Subtotal = $487,500

Issue Date FY: 2017 ( Subtotal = $487,500 )
2017	2017	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES RD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	21	6/19/2017	NON-COMPETING CONTINUATION	$487,500
														Subtotal = $487,500

Issue Date FY: 2016 ( Subtotal = $487,500 )
2016	2016	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	20	8/3/2016	COMPETING CONTINUATION	$487,500
2016	2015	SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	19	6/10/2016	NON-COMPETING CONTINUATION	$0
														Subtotal = $487,500

Issue Date FY: 2015 ( Subtotal = $480,187 )
2015	2015	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	19	3/25/2015	NON-COMPETING CONTINUATION	$41,437
2015	2015	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	19	11/24/2014	NON-COMPETING CONTINUATION	$438,750
														Subtotal = $480,187

Issue Date FY: 2014 ( Subtotal = $477,750 )
2014	2014	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	18	11/26/2013	NON-COMPETING CONTINUATION	$438,750
2014	2014	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	18	3/19/2014	NON-COMPETING CONTINUATION	$39,000
														Subtotal = $477,750

Issue Date FY: 2013 ( Subtotal = $474,100 )
2013	2013	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	17	11/21/2012	NON-COMPETING CONTINUATION	$438,750
2013	2013	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	002	17	7/2/2013	NON-COMPETING CONTINUATION	$25,350
2013	2012	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	16	10/29/2012	NON-COMPETING CONTINUATION	$10,000
														Subtotal = $474,100

Issue Date FY: 2012 ( Subtotal = $487,500 )
2012	2012	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	16	11/17/2011	NON-COMPETING CONTINUATION	$429,750
2012	2012	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	16	4/5/2012	NON-COMPETING CONTINUATION	$47,750
2012	2012	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	002	16	10/29/2012	NON-COMPETING CONTINUATION	$10,000
														Subtotal = $487,500

Issue Date FY: 2011 ( Subtotal = $477,500 )
2011	2011	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	15	12/8/2010	COMPETING CONTINUATION	$477,500
2011	2009	SANFORD-BURNHAM MEDICAL RESEARCH INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	001	14	12/21/2010	NON-COMPETING CONTINUATION	$0
														Subtotal = $477,500

Issue Date FY: 2009 ( Subtotal = $452,756 )
2009	2009	BURNHAM INSTITUTE FOR MEDICAL RESEARCH	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	14	3/4/2009	NON-COMPETING CONTINUATION	$452,756
														Subtotal = $452,756

Issue Date FY: 2008 ( Subtotal = $452,756 )
2008	2008	BURNHAM INSTITUTE FOR MEDICAL RESEARCH	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	13	3/17/2008	NON-COMPETING CONTINUATION	$452,756
														Subtotal = $452,756

Issue Date FY: 2007 ( Subtotal = $452,756 )
2007	2007	BURNHAM INSTITUTE FOR MEDICAL RESEARCH	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	12	3/16/2007	NON-COMPETING CONTINUATION	$452,756
														Subtotal = $452,756

Issue Date FY: 2006 ( Subtotal = $466,279 )
2006	2006	BURNHAM INSTITUTE FOR MEDICAL RESEARCH	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	11	3/23/2006	NON-COMPETING CONTINUATION	$466,279
														Subtotal = $466,279

Issue Date FY: 2005 ( Subtotal = $477,500 )
2005	2005	THE BURNHAM INSTITUTE	10901 NORTH TORREY PINES ROAD	LA JOLLA	CA	92037	SAN DIEGO	USA	Cardiovascular Diseases Research	000	10	2/7/2005	COMPETING CONTINUATION	$477,500
														Subtotal = $477,500

Issue Date FY: 2003 ( Subtotal = $338,879 ) (Continued on the next page)
2003	2003	UNIVERSITY OF MICHIGAN	3003 S STATE ST 3089 WOLVERINE	ANN ARBOR	MI	48109	WASHTENAW	USA	Cardiovascular Diseases Research	000	8		NON-COMPETING CONTINUATION	$109,683
Grand Total All Awards = $11,601,042

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Genetic Control of Cardiac Development: Congenital Heart Disease Gene Discovery in Drosophila

Award Number: R01HL054732

ORGANIZATION: NATIONAL HEART, LUNG, & BLOOD INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 08/01/1995

PERIOD OF PERFORMANCE END DATE: 06/30/2025

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