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Fine Mapping and Phenotypic Association of Chromosome 18 CNVs in the Gabriela Miller Kids First Pediatrics Research Program

Award Number: R03HD120869
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: 09/21/2026
PERIOD OF PERFORMANCE END DATE: 08/31/2028

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Fine Mapping and Phenotypic Association of Chromosome 18 CNVs in the Gabriela Miller Kids First Pediatrics Research Program - Project Summary / Abstract Rare copy-number variants (CNVs) contribute significantly to structural birth defects, yet the mechanisms underlying non-recurrent CNVs remain poorly understood. Chromosome 18, which lacks segmental duplications that predispose to recurrent rearrangements, provides a unique model to study alternative mechanisms of rearrangements and identify dosage-sensitive genes associated with congenital anomalies. We propose to analyze genetic and detailed Human Phenotype Ontology (HPO)-harmonized clinical data from a cohort of 149 individuals with chromosome 18 CNVs to systematically evaluate approximately 100 genes for their role in over 20 structural birth defects. We will integrate whole-genome sequencing with computational analyses to achieve two specific aims: Utilize a robust CNV calling pipeline to accurately map chromosome 18 CNVs and refine breakpoint sequences using advanced computational tools (Aim 1). Perform gene-phenotype association analyses to identify recessive and dosage-sensitive genes contributing to the phenotypes and validate these associations in a broader Gabriella Miller Kids First (GMKF) cohort of 157,000 individuals with specific structural birth defects and assess prevalence and expressivity of these genes in broader population- scale biobanks (Aim 2). Our study will identify novel genes for structural birth defects and enhance our understanding of genomic mechanisms underlying structural birth defects. All computational tools and data generated will be publicly available to facilitate data sharing and collaboration.


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 = $289,075 )
2026	2026	THE PENNSYLVANIA STATE UNIVERSITY	201 OLD MAIN	UNIVERSITY PARK	PA	16802	CENTRE	USA	Child Health and Human Development Extramural Research	000	1	9/17/2026	NEW	$289,075
														Subtotal = $289,075

Grand Total All Awards = $289,075

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Fine Mapping and Phenotypic Association of Chromosome 18 CNVs in the Gabriela Miller Kids First Pediatrics Research Program

Award Number: R03HD120869

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: 09/21/2026

PERIOD OF PERFORMANCE END DATE: 08/31/2028

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