Osteoporosis is a complex disease of decreased bone mass resulting in fracture that is estimated to affect over 12 million Americans. Numerous studies have shown that osteoporosis is largely a genetic or familial disease. Our lab uses a number of strategies to identify the gene that are associated with osteoporosis and the environmental factors that interact with these genes to alter bone mass and strength. Our main research areas are:
The overall goal of this project is to identify genes that participate in the regulation of bone mechanical integrity, which collectively allow us to understand all levels of bone strength including whole bone and tissue level strength and which do so via interaction with parathyroid hormone (PTH).
System Genetics | |
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Identification of Genes Regulating PTH-Mediated Skeletal Strength | |
The overall goal of this project is to identify genes that participate in the regulation of bone mechanical integrity, which collectively allow us to understand all levels of bone strength including whole bone and tissue level strength and which do so via interaction with parathyroid hormone (PTH). | ![]() |
Environmental agents as modifiers of disease process | |
It has been postulated that environmental pollutants have Snegative consequences for the bone mass via increasing systemic inflammation. In this pilot study we seek to establish a link between inflammation caused by inhaled pollution and failure to achieve maximum peak bone mass. Concurrently we will determine if this relationship between pollution and bone is impacted by genetic factors. | ![]() |
Functional Validation of GWAS Loci | |
To date, over 500 bone mineral density have been identified via Genome Wide Association Studies (GWAS) in humans. As we enter the “post-GWAS era,” focus is now shifting towards the underlying gene or genes, and determining the how’s, the what’s, the why’s and the when’s by which these loci act and interact to cause a phenotype. We use in vivo and in vitro models determine the biological function of uncharacterized candidate genes for bone mineral density, bone formation and bone strength. | ![]() |