NEW YORK (GenomeWeb News) – Baylor College of Medicine will use a $6.6 million grant from the National Institutes of Health to lead a research project that will use genetics and genomics technologies to learn more about brittle bone disease.
BCM will work with the University of Washington and the University of California, Los Angeles to study osteogeneis imperfecta, the most common genetic bone disorder, BCM said Monday.
Osteogenesis imperfecta formerly was linked to a single gene problem that was associated with the ability to make a form of collagen, but recent research conducted by BCM Professor of Molecular and Human Genetics Brendan Lee and followed up by other scientists has found six new genes associated with the disorder.
"However, we know that there are still families and patients without mutations in the known genes. As part of this NIH study, we will perform whole exome sequencing on cases that are either negative for mutation in these known genes or in which we have mapped the candidate gene to a location in the genome that is different from these known genes," Lee told GenomeWeb Daily News in an e-mail.
Lee, who is lead investigator on the grant and director of the Rolanette and Berdon Lawrence Bone Disease Program of Texas, will work with the BCM Human Sequencing Center to use high-throughput sequencing techniques to identify new genes associated with osteogenesis imperfecta. Another component of the research will test possible therapies.