Among the remaining incurable conditions that affect children is osteogenesis imperfecta or brittle bone disease, an inherited (genetic) bone disorder that is present at birth. At The City College of New York, Alessandra Carriero, assistant professor of biomedical engineering, is engaged in a groundbreaking study on improving treatment for children with this rare disease that is characterized by fragile bones that break easily.
Carriero’s research in City College’s Grove School of Engineering is supported by a two-year $419,606 grant from the National Institutes of Health (NIH) through its Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
According to Carriero, the “high-risk high reward” grant is enabling her and her Italian collaborators in Dr. Antonella Forlino's lab at the University of Pavia, to study a novel bone specific pharmacological treatment for osteogenesis imperfecta using zebrafish models of the disease.
Osteogenesis imperfecta is caused by defective genes. These genes affect how the body makes collagen, a protein that helps toughen bones. The condition can be mild, with only a few fractures during a person's lifetime. In more severe cases, it can involve hundreds of fractures that occur without any apparent cause.
“These children get extremely disabled as their disease is due to modification of collagen type I - the most abundant protein in our body,” said Carriero. “With this NIH grant we will investigate the efficacy of a novel 4-phenyl butyrate drug to reduce endoplasmic reticulum stress in osteogenesis imperfecta cells thus improving bone quality. We will also examine the ability of a synthetic collagen hybridizing peptide as carrier to deliver the drug directly to the bone cells. This therapy may transform treatment strategies for bone fragility in brittle bone disease.”
Currently, treatment for osteogenesis imperfecta, of which fewer than 20,000 cases are reported in the United States every year, include bone-strengthening medications, physical therapy, and orthopedic surgery.
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Jay Mwamba
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