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ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth

Award Number: U24HD104588
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: COOPERATIVE AGREEMENT
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/01/2021
PERIOD OF PERFORMANCE END DATE: 08/31/2025

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ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth - Congenital anomalies occur in approximately 3% of all pregnancies and are a leading cause of perinatal, infant, and childhood mortality and morbidity. The majority of these anomalies are identified during pregnancy but despite the introduction of increasingly more sophisticated prenatal genomic testing such as sequencing, a specific diagnosis is hampered by our inability to accurately interpret genomic data. A leading barrier to interpretation is the lack of expert consensus regarding gene-disease association, variant pathogenicity, and actionability of findings, creating challenges for obstetric and genetic providers to offer appropriate care. Accordingly, in response to the Eunice Kennedy Shriver National institute of Child Health and Human Development's interest in the genomics of birth defects, this application is a proposal to become a participating ClinGen expert panel to evaluate the clinical relevance of genes and variants related to fetal congenital anomalies. Our proposal will develop gene disease validity and variant curation expert panels to evaluate two common and unique severe fetal disorders: non-immune fetal hydrops and unexplained stillbirth. The variant and gene curation panels are composed of experts in clinical genetics, maternal fetal medicine, molecular laboratory testing, computer science, developmental biology, genetic counseling and biocuration. Members of our expert panel come from diverse national and international institutions and have extensive experience in prenatal phenotyping and genotyping. The panel also has members who have served on other ClinGen expert panels and committees, which will facilitate our integration into the ClinGen infrastructure. Our proposal describes the details of our intended use of ClinGen policies, procedures, and tools to best determine the clinical relevance of specific genes and variants to clinical care. We are committed to sharing our data and results with others and contributing to the genetic knowledge base in the area of early developmental disease.


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 = -$663,370 )
2025	2023	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Child Health and Human Development Extramural Research	002	3	1/7/2025	NON-COMPETING CONTINUATION	$0
2025	2023	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Child Health and Human Development Extramural Research	001	3	12/29/2024	NON-COMPETING CONTINUATION	-$348,661
2025	2022	THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Child Health and Human Development Extramural Research	000	2	12/29/2024	NON-COMPETING CONTINUATION	-$314,709
														Subtotal = -$663,370

Issue Date FY: 2023 ( Subtotal = $348,661 )
2023	2023	TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK, THE	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Child Health and Human Development Extramural Research	000	3	8/28/2023	NON-COMPETING CONTINUATION	$348,661
														Subtotal = $348,661

Issue Date FY: 2022 ( Subtotal = $352,630 )
2022	2022	TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK, THE	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Child Health and Human Development Extramural Research	000	2	8/22/2022	NON-COMPETING CONTINUATION	$352,630
														Subtotal = $352,630

Issue Date FY: 2021 ( Subtotal = $356,073 )
2021	2021	TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK, THE	630 W 168TH ST FL 4	NEW YORK	NY	10032	NEW YORK	USA	Child Health and Human Development Extramural Research	000	1	8/10/2021	NEW	$356,073
														Subtotal = $356,073

Grand Total All Awards = $393,994

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ClinGen Expert Curation Panel for Severe Structural Anomalies and Stillbirth

Award Number: U24HD104588

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: COOPERATIVE AGREEMENT

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

PERIOD OF PERFORMANCE START DATE: 09/01/2021

PERIOD OF PERFORMANCE END DATE: 08/31/2025

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