NEW YORK (GenomeWeb News) – Investigators at the University of Texas Health Sciences Center-Houston and the University of Miami's Miller School of Medicine will use a $3.6 million grant from the National Institutes of Health to identify genes that may cause familial cleft lip and palate (CLP).
The partners seek to find genes that will enable them to better identify those who are at-risk for non-syndromic cleft lip with or without cleft palate (NSCLP), a birth defect that affects around 4,000 newborns in the US and 135,000 people globally each year.
The etiology of the NSCLP defect is poorly understood, and the researchers at Texas and Miami will use whole-exome sequencing and chromosomal microarray analysis to detect coding and non-coding variants and to detect copy number variants that sequencing may miss.
The researchers will prioritize candidate genes and conduct functional testing in zebrafish to determine their biological significance. The genes also will be analyzed in case controls for spectrum variation and risk modelling.
The grant from the National Institute of Dental and Craniofacial Research was awarded to UT-Houston's Jacqueline Hecht, who is associate dean of research for the School of Dentistry and has been collecting information on NSCLP over the past 25 years.
The sequencing and bioinformatics analysis efforts will be led by UM's Susan Halloran Blanton, who is executive director of the John. P. Hussman Institute for Human Genomics and an associate professor of human genetics. Blanton told GenomeWeb Daily News in an e-mail that the funding will be split roughly in half between the two universities.
"We are conducting whole-exome sequencing on participants from families with two or more individuals with cleft lip/palate," Blanton said.
"We have both Hispanic and non-Hispanic white families. One affected individual from each family will also undergo chromosomal micro-array analysis to look for CNVs," she said. "We hope to identify genes/variants that are more common in individuals with CLP than without it. … By identifying the genes/pathways that cause CLP, we may be able to better predict which families are at risk and develop prevention modalities."