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Human Genetics of Osteoarthritis and other Bone and Joint Abnormalities

We have taken a historically proven approach to identify rare gene variants that have a strong and unambiguous effect on susceptibility to osteoarthritis and other bone and joint abnormalities. The study of rare, early-onset or severe forms of common diseases has proven deeply revealing with respect to the biochemical pathways affected in milder and sporadic forms of these diseases. We are studying families with highly penetrant forms of early-onset or severe osteoarthritis. By studying a large cohort of families with distinct types of early-onset/severe osteoarthritis, we are beginning to identify the biological pathways that have a strong effect on the osteoarthritis phenotype.

To identify families with osteoarthritis and other bone and joint abnormalities we utilize a truly unique resource available to researchers at the University of Utah, the Utah Population Database (UPDB). The UPDB is the only database of its kind in the United States and is the world’s largest resource for tracking diseases in families, with over 11 million people in large, multigenerational pedigrees, linked to >20 million medically relevant records. The majority of families residing in Utah are represented in UPDB, with a special emphasis on genealogy records of the European founders of Utah and their Utah descendants.

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