A $6.6 million, five-year grant from the National Institutes of Health will allow researchers at Baylor College of Medicine in collaboration with the University of California at Los Angeles and the University of Washington in Seattle to study newly recognized forms of a brittle bone disease called osteogenesis imperfecta.

Common bone disorder

"There is a whole new class of osteogenesis imperfecta (also known as brittle bone disease) that we need to study to understand from a biochemical and human perspective how they cause bone disease," said Dr. Brendan Lee, principal investigator on the grant and professor of molecular and human genetics at BCM. Lee is also a Howard Hughes Medical Institute Investigator and director of the Skeletal Dysplasia Clinic at Texas Children’s Hospital.

Osteogenesis imperfecta is the most common genetic bone disorder. Previously, researchers linked it to a single gene flaw associated with the ability to make a form of collagen, a connective tissue. However, new research – first done in Lee’s laboratory and then followed up by other researchers– has identified six new genes associated with forms of the disorder for which no previous cause was known.

Two components of study

One part of the new study will include understanding the various genetic and biochemical aspects of this disorder. Another part will use new high throughput sequencing techniques through the BCM Human Genome Sequencing Center to identify new genes and another will test possible therapies.

Lee is also director of The Rolanette and Berdon Lawrence Bone Disease Program of Texas, a collaborative research and clinical program of Baylor College of Medicine and The University of Texas MD Anderson Cancer Center.

Lee will collaborate with Drs. Deborah Krakow and Don Cohn at UCLA and Dr. David Eyre of the University of Washington.