# Enhanced Data from Orofacial Cleft Trios to Strengthen the Gabriella Miller Kids First (GMKF) Discovery Goals

> **NIH NIH R03** · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · 2022 · $170,169

## Abstract

ABSTRACT
Nonsyndromic orofacial clefts (OFCs) of the lip (CL), palate (CP), or both (CLP) occur in about 1/700 live births
worldwide, and thus comprise a significant proportion of human structural birth defects. OFCs require surgical,
nutritional, dental, speech, medical, and behavioral interventions, imposing substantial public health, economic,
and personal burdens. On average a child with an OFC initially faces feeding difficulties, then undergoes
intensive medical, dental, and speech interventions, leading to an estimated total lifetime treatment cost of
about $200,000. Further, individuals born with an OFC have higher infant mortality, higher mortality rates at all
other stages of life, and higher risk for other disorders (notably including some cancers).
The etiology of OFCs is complex, clearly including a major genetic component with approximately 50
significantly associated loci identified to date. Thus we and others have received support from various NIH
programs for SNP array genotyping, and also, notably, for whole-genome sequencing (WGS) primarily from
the Gabriella Miller Kids First Initiative (GMKF). To date, we have received WGS through five separate GMKF
grants for a total of 1,486 OFC proband trios. The sequence data from these projects are shared through the
GMKF Data Resource Center and the phenotype data through the GMKF Data Resource Center and (in xome
cases) dbGaP. To date, the most critical phenotype data has been uploaded to dbGaP (e.g. sex,
population/ethnicity, OFC type), but there is a wealth of other phenotypic data available from these studies
(e.g. details on the OFC birth defect, pregnancy history, medical/surgical history, etc) that is not yet part of the
available data for these projects. The goal of this project is to make additional semantically curated data
elements from the OFC studies available to the research community through GMKF, in order to expand
the scope and value of the data from the GMKF orofacial cleft trios and to facilitate cross GMKF-study
analyses.

## Key facts

- **NIH application ID:** 10423437
- **Project number:** 1R03DE032062-01
- **Recipient organization:** UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- **Principal Investigator:** Mary L. Marazita
- **Activity code:** R03 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2022
- **Award amount:** $170,169
- **Award type:** 1
- **Project period:** 2022-04-01 → 2024-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10423437

## Citation

> US National Institutes of Health, RePORTER application 10423437, Enhanced Data from Orofacial Cleft Trios to Strengthen the Gabriella Miller Kids First (GMKF) Discovery Goals (1R03DE032062-01). Retrieved via AI Analytics 2026-05-28 from https://api.ai-analytics.org/grant/nih/10423437. Licensed CC0.

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