Research interests: Birth defects of the limbs and ears
Dr. Beck’s overall research interests are in the elucidation of the genetic causes underlying birth defects in children, specifically malformations of the limbs and ears. For the limb project, Dr. Beck works with Dr. Bamshad in studying contracture syndromes that involve the hands and feet. In these distal arthrogryposis syndromes (for example, Freeman-Sheldon syndrome and Sheldon-Hall syndrome), we look for mutations in genes that cause the hand and foot contractures. Because most of these causative genes make proteins that are part of the contraction apparatus of skeletal muscle, Drs. Beck and Bamshad collaborate with Dr. Mike Regnier in UW’s Department of Bioengineering to understand the changes in muscle function found in people with limb contractures. Furthermore, we are applying the lessons learned from inherited contracture syndromes to study isolated limb contractures such as clubfoot.
For the ear project, Dr. Beck has a long-standing interest in ear malformations that are inherited in families. Specifically, two conditions that Dr. Beck studies are the oculo-auriculo-vertebral spectrum (OAVS) and isolated familial microtia. The genetic contributions to these two ear malformation syndromes are not yet well understood. However, the autosomal dominant inheritance patterns of these birth defects make them good candidates for gene discovery.