# Analysis of Whole Genome Sequencing Data From an Infantile Hemangioma Syndrome Cohort

> **NIH NIH R03** · MEDICAL COLLEGE OF WISCONSIN · 2020 · $160,420

## Abstract

PROJECT SUMMARY
Infantile hemangiomas are the most common benign vascular tumor in infants, affecting 4-5% of
children. Thirty percent of segmental infantile hemangiomas on the face and scalp are associated
with birth defects of multiple organs. This condition is known as PHACE, an acronym for posterior
fossa brain malformations, segmental facial hemangiomas, arterial anomalies, cardiac defects, eye
anomalies, and sternal clefting. There is high morbidity associated with PHACE including risk to
vision, congenital heart disease often requiring surgery, risk of stroke, deafness and
neurodevelopmental delays. The hemangioma is a vascular tumor that requires treatment in infancy
to prevent functional complications and disfigurement, but later undergoes involution. Our strategy is
to use this highly valuable PHACE cohort to discover critical genes related to structural birth defects
which will be a valuable resource to link multiple different projects in the Kids First Program. In Aim 1
we will analyze WGS to identify de novo genomic features in PHACE including single nucleotide
variants, INDELS, copy number alterations, and structural variants. We then will use publicly available
genome structural, epigenetic regulation, and gene expression data to identify epigenetic
associations. In Aim 2 we will identify biologic processes affected by multiple different genomic
variants for each major structural birth defect phenotype of PHACE. We will next use the Kids First
Data Resource to integrate genomic and phenotypic data from a broad range of publicly available
cohort databases to identify genetic pathways that are common to both PHACE and other childhood
cancer and structural birth defect cohorts.

## Key facts

- **NIH application ID:** 9921445
- **Project number:** 5R03HD098526-02
- **Recipient organization:** MEDICAL COLLEGE OF WISCONSIN
- **Principal Investigator:** Dawn H. Siegel
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $160,420
- **Award type:** 5
- **Project period:** 2019-05-01 → 2022-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9921445

## Citation

> US National Institutes of Health, RePORTER application 9921445, Analysis of Whole Genome Sequencing Data From an Infantile Hemangioma Syndrome Cohort (5R03HD098526-02). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9921445. Licensed CC0.

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