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Study Description

The Gabriella Miller Kids First Pediatric Research Program (Kids First) is a trans-NIH effort initiated in response to the 2014 Gabriella Miller Kids First Research Act and supported by the NIH Common Fund. This program focuses on gene discovery in pediatric cancers and structural birth defects and the development of the Gabriella Miller Kids First Pediatric Data Resource (Kids First Data Resource).

All of the WGS and phenotypic data from this study are accessible through dbGaP and kidsfirstdrc.org, where other Kids First datasets can also be accessed.

The focus of this study is to identify novel risk variants for OFC in Africa and Asian OFC case-parent triads through analysis of Whole Genome Sequencing data.

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Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. The site also contains data dictionaries, variable summaries, documents, and truncated analyses, whenever available.

Study Inclusion/Exclusion Criteria

About 300 Case-parent trio samples were selected for this whole genome sequencing as part of the Gabriella Miller Kids First Orofacial Clefts Projects. Samples of individuals with non-syndromic clefts and their parents were obtained from independent research collaborations in Africa and Asia led by Dr. Butali and Dr. Beaty, respectively. All participating subjects were informed of the purpose and procedures of these research projects, and informed consent was obtained from all participants (or their legal guardians) under the review of IRBs at both foreign and domestic institutions.

Study History

Orofacial clefts (OFC) represent the most common group of craniofacial birth defects, affecting up to 1/700 live births worldwide. OFC represent a major public health burden for patients, their families and the overall health care system. OFC can be surgically corrected early in life, but complete treatment requires a multidisciplinary team to restore aesthetics and full function. While it has become standard to have this type of multidisciplinary team in developed countries, most low-income and developing countries do not have adequate resources, and there is considerable health inequality for OFC patients across the world. There is substantial social stigmatization associated with OFC, and population based studies have reported individuals with OFC have higher mortality rates throughout life, even in developed countries. In addition, OFC patients are at a higher risk for cancers and certain mental illnesses. The high morbidity associated with OFC and its required treatment add up to a life-time cost estimated at around $200,000 per patient. Therefore, OFC are important birth defects where we still need a better understanding of genes controlling risk to identify those at highest risk and to design effective prevention strategies.

The Gabriella Miller 'Kids First' Pediatric Research Program has created a unique opportunity for comprehensive genomic studies of OFC. This current project will complement and extend the two Kids First X01 studies of OFC case-parent trios by conducting WGS in about 300 case-parent trios from two separate racial groups in Africa and Asia collected by independent genetic epidemiologic studies directed by Dr. Butali and by Dr. Beaty, respectively.

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