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Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program

Award Number: R03HD111405
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 03/21/2023
PERIOD OF PERFORMANCE END DATE: 02/28/2025

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Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program - Abstract The chromosome 18 cohort with hemizygous deletions of chromosome 18 who manifest a multitude of structural birth defects bring an expanded opportunity to the Gabrielle Miller Kids First Pediatric Research Program (GMKF) (Project number (HD107271-01). This cohort, with known and varied genetic contributors to those birth defects, will contribute valuable data toward understanding the underlying molecular gene contributors of a variety of a number of structural birth defects. However, our current phenotypic database lacks important details about the associated endophenotypes and the outcomes of any treatments. We have a wealth of data in the existing scanned medical records, survey and questionnaire answers and from our on-site clinical evaluation records. Additionally we have longstanding relationships with the participating families and can follow up to verify, get new details, and clarify information. We propose to expand the scope of the curated data elements, map Human Phenotype Ontology (HPO) terms to those data elements thereby increasing the value of the data available to the research community. Our plan to enhance the depth and scope of the phenotype data is to first reevaluate all the existing records adding additional data elements where necessary to the database. This evaluation will generate a report for the families detailing the information we have and the dates the information was gathered. We will ask the families for any updated information focusing on evaluation and treatment outcomes for any of the structural birth defects as well as any cancer diagnoses. The enhanced dataset will be standardized by the mapping of the Human Phenotype Ontology (HPO) terms to the data elements. The outcome of this project will be to increase the accessibility and quality of these data to the broader research community as these phenotype data are integrated with the genomic data generated by the GMKF program.


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	THE UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO	7703 FLOYD CURL DR	SAN ANTONIO	TX	78229	BEXAR	USA	Child Health and Human Development Extramural Research	000	2	6/27/2025	NON-COMPETING CONTINUATION	$0
														Subtotal = $0

Issue Date FY: 2024 ( Subtotal = $155,000 )
2024	2024	THE UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO	7703 FLOYD CURL DR	SAN ANTONIO	TX	78229	BEXAR	USA	Child Health and Human Development Extramural Research	001	2	5/2/2024	NON-COMPETING CONTINUATION	$15,500
2024	2024	UNI OF TX HEALTH SCIENCE CTR SAN ANT	7703 FLOYD CURL DR	SAN ANTONIO	TX	78229	BEXAR	USA	Child Health and Human Development Extramural Research	000	2	2/14/2024	NON-COMPETING CONTINUATION	$139,500
														Subtotal = $155,000

Issue Date FY: 2023 ( Subtotal = $155,000 )
2023	2023	UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER OF SAN ANTONIO	7703 FLOYD CURL DR	SAN ANTONIO	TX	78229	BEXAR	USA	Child Health and Human Development Extramural Research	000	1	3/21/2023	NEW	$155,000
														Subtotal = $155,000

Grand Total All Awards = $310,000

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Chromosome 18 Cohort Phenotype Enrichment to Strengthen the Gabriella Miller Kids First Program

Award Number: R03HD111405

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 03/21/2023

PERIOD OF PERFORMANCE END DATE: 02/28/2025

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