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Unraveling mechanisms of genome regulation to understand and improvehuman health

Award Number: R35GM119465
ORGANIZATION: NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/09/2016
PERIOD OF PERFORMANCE END DATE: 07/31/2026

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Unraveling mechanisms of genome regulation to understand and improvehuman health - Summary The human body is constructed during through tightly orchestrated patterns of gene expression during embryonic and postnatal development. Perturbations in gene regulation during development are thought to be a major substrate for natural selection and have likely contributed to the evolution of the human form. The molecular processes that contributed to sculpting human specific features of our limbs and brains, can have deleterious consequences when a critical gene or regulatory sequence is affected. Defective gene regulation during embryonic development can result in a variety of structural and functional defects such as congenital heart defects, orofacial clefting, or neurological dysfunction. In cases where a birth defect is not readily observed the individual may be instead be predisposed to various diseases later in life including diabetes or cancer. While our understanding of the genetic code for protein coding genes allows us to make predictions about disease risk our limited understanding of the information encoded in the rest of our genome prevents such predictions and causative assignments. Over the past several years functional annotations of the genome in tissue and developmental stage specific contexts have revealed over half a million potential regulatory elements. We and others have shown that variants linked to diseases and phenotypes of particular tissues are enriched in regulatory sequences that are active in those tissues or during their development. This has been particularly fruitful for defects related to craniofacial and heart development. The work proposed aims to build on these annotations to identify the genes that are controlled by these tissue-specific regulatory sequences and the consequences of variation in those sequences. Using culture and organoid models of early human cardiac development we aim to dissect the regulatory architecture that build the heart and malfunctions in congenital heart defects.


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 = $445,000 )
2025	2025	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Biomedical Research and Research Training	002	10	7/1/2025	NON-COMPETING CONTINUATION	$445,000
2025	2024	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Biomedical Research and Research Training	001	9	3/24/2025	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$153,039
2025	2023	UNIVERSITY OF CONNECTICUT HEALTH CENTER	263 FARMINGTON AVE	FARMINGTON	CT	06030	CAPITOL	USA	Biomedical Research and Research Training	000	8	3/24/2025	NON-COMPETING CONTINUATION	-$153,039
														Subtotal = $445,000

Issue Date FY: 2024 ( Subtotal = $238,089 )
2024	2024	THE CHILDREN'S HOSPITAL OF PHILADELPHIA	3401 CIVIC CENTER BLVD	PHILADELPHIA	PA	19104	PHILADELPHIA	USA	Biomedical Research and Research Training	001	9	7/22/2024	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$445,000
2024	2023	UNIVERSITY OF CONNECTICUT HEALTH CENTER	263 FARMINGTON AVE	FARMINGTON	CT	06030	CAPITOL	USA	Biomedical Research and Research Training	000	8	7/22/2024	NON-COMPETING CONTINUATION	-$206,911
														Subtotal = $238,089

Issue Date FY: 2023 ( Subtotal = $410,000 )
2023	2023	UNIVERSITY OF CONNECTICUT HEALTH CENTER	263 FARMINGTON AVE	FARMINGTON	CT	06030	CAPITOL	USA	Biomedical Research and Research Training	000	8	7/21/2023	NON-COMPETING CONTINUATION	$410,000
														Subtotal = $410,000

Issue Date FY: 2022 ( Subtotal = $410,000 )
2022	2022	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	002	7	8/24/2022	NON-COMPETING CONTINUATION	$410,000
2022	2021	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	001	6	5/19/2022	COMPETING CONTINUATION	$184,924
2022	2020	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	000	5	5/19/2022	NON-COMPETING CONTINUATION	-$184,924
														Subtotal = $410,000

Issue Date FY: 2021 ( Subtotal = $410,000 )
2021	2021	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	001	6	9/14/2021	COMPETING CONTINUATION	$410,000
2021	2020	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	000	5	9/6/2021	NON-COMPETING CONTINUATION	$0
														Subtotal = $410,000

Issue Date FY: 2020 ( Subtotal = $398,750 )
2020	2020	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	000	5	5/27/2020	NON-COMPETING CONTINUATION	$398,750
														Subtotal = $398,750

Issue Date FY: 2019 ( Subtotal = $398,750 )
2019	2019	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	000	4	5/30/2019	NON-COMPETING CONTINUATION	$398,750
														Subtotal = $398,750

Issue Date FY: 2018 ( Subtotal = $398,750 )
2018	2018	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	000	3	5/24/2018	NON-COMPETING CONTINUATION	$398,750
														Subtotal = $398,750

Issue Date FY: 2017 ( Subtotal = $398,750 )
2017	2017	UNIVERSITY OF CONNECTICUT	263 FARMINGTON AVE, ASB #3	FARMINGTON	CT	06032	CAPITOL	USA	Biomedical Research and Research Training	000	2	5/31/2017	NON-COMPETING CONTINUATION	$398,750
														Subtotal = $398,750

Issue Date FY: 2016 ( Subtotal = $398,750 )
2016	2016	UNIVERSITY OF CONNECTICUT HEALTH CENTER	263 FARMINGTON CENTER	FARMINGTON	CT	06030	CAPITOL	USA	Biomedical Research and Research Training	000	1	9/9/2016	NEW	$398,750
														Subtotal = $398,750

Grand Total All Awards = $3,906,839

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Unraveling mechanisms of genome regulation to understand and improvehuman health

Award Number: R35GM119465

ORGANIZATION: NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 09/09/2016

PERIOD OF PERFORMANCE END DATE: 07/31/2026

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