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Dissecting the Genetic and Phenotypic Architecture of Stillbirth and Fetal Structural Anomalies to Improve Prenatal Diagnosis

Award Number: K08HD121809
ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP
PERIOD OF PERFORMANCE START DATE: 07/01/2026
PERIOD OF PERFORMANCE END DATE: 06/30/2031

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Dissecting the Genetic and Phenotypic Architecture of Stillbirth and Fetal Structural Anomalies to Improve Prenatal Diagnosis - PROJECT SUMMARY/ABSTRACT Stillbirth (SB) and Fetal Structural Anomalies (FSA) are serious developmental conditions impacting an estimated 1 in 175 and 1 in 33 pregnancies in the United States, respectively. These outcomes result in significant long-term disability and impose a substantial socioeconomic burden. While genetic research has provided insights into contributing factors, a comprehensive understanding of the phenotypic and genotypic contributors and their relationship to postnatal developmental delay remains limited. Integrating large-scale genomic and phenotypic data, along with implementing a collaborative framework for data federation and sharing, holds promise for advancing precision medicine approaches in perinatal diagnostics. The following proposal outlines a 5-year career training plan that will prepare me to be an independent physician-scientist and a leader in the field of perinatal precision diagnosis. The central aim of this proposal is to investigate the genetic and phenotypic overlap between SB, FSA and developmental delay by leveraging robust, large-scale datasets. The specific objectives are to: (1) identify pathogenic and candidate variants; (2) perform a comprehensive analysis of phenotypes and their correlation with genotypes across prenatal indications and; (3) standardize and harmonize genotype and phenotype data for broader community use all while incorporating advanced statistical methodologies and phenotype-driven variant prioritization. These aims will uncover key biological pathways and genetic risk factors shared between indications and will represent a fundamental advancement towards understanding the genetic etiologies of prenatal presentations of disease. The project will be led by Dr. Michael Duyzend, a physician-scientist with expertise in medical genetics, variant interpretation, cohort-building, and the genomics of the developmental continuum. He has a minimum of 80% protected time from the Boston Children’s Hospital Division of Genetics and Genomics to accomplish these aims under the guidance of Dr. Michael Talkowski at the Center for Genomic Medicine at Massachusetts General Hospital and the Broad Institute. He has assembled a distinguished team of co-mentors and advisors with complimentary expertise who will further support the research and career development components of his training program. Dr. Duyzend details a comprehensive training plan that takes advantage of his unique cross- institutional collaboration that includes mentored research, targeted coursework, national and international conference participation, preparation of manuscripts, and pursuit of additional independent funding, ultimately culminating in an R01 submission. Dr. Duyzend has the commitment of all involved institutions to accomplish these goals and transition to an independent physician-scientist position by the end of the award.


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 = $167,400 )
2026	2026	CHILDREN'S HOSPITAL CORPORATION, THE	300 LONGWOOD AVE	BOSTON	MA	02115	SUFFOLK	USA	Child Health and Human Development Extramural Research	000	1	6/26/2026	NEW	$167,400
														Subtotal = $167,400

Grand Total All Awards = $167,400

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Dissecting the Genetic and Phenotypic Architecture of Stillbirth and Fetal Structural Anomalies to Improve Prenatal Diagnosis

Award Number: K08HD121809

ORGANIZATION: NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: TRAINING/TRAINEESHIP

PERIOD OF PERFORMANCE START DATE: 07/01/2026

PERIOD OF PERFORMANCE END DATE: 06/30/2031

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