Roy Morello, PhD

Congenital (birth) defects in type I collagen, the most abundant protein in our body, give rise to Osteogenesis Imperfecta (OI – brittle bone disease). This is a disease that causes severe bone fragility as well as potential respiratory distress at birth and decreased respiratory function in adulthood. We will tease out the contribution of intrinsic (within the lung) versus extrinsic (outside of the lung, such as abnormalities in the chest wall and curvature of the spine) factors underlying the impaired breathing function in OI. We will also identify the alveolar cellular/molecular changes caused by type I collagen defects in animal models of OI. We will find out if intrinsic lung changes contribute significantly to breathing impairment in OI. This will provide a clearer understanding of the consequences of type I collagen mutations in the lung. Our goal is to identify new therapeutic targets and approaches to improve the overall health of patients with OI.S