This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The prevalence of congenital anomalies (i.e., birth defects) in developed countries is ~4-5% of live births. The most common birth defects disrupt development of either the heart or a limb. Such defects are associated with substantial morbidity and economic burden, and accordingly attempts to identify the etiology and understand the pathogenesis of these defects have, over the past few decades, been an important area of children's healthcare research. The major goal of this protocol is to identify and characterize genetic variants causing limb malformations. This goal has not changed appreciably over the last 10 years. Indeed, this work has led to the successful characterization of the molecular basis, independently and in collaboration, of approximately a dozen limb defects caused by genes including TBX3, TBX5, TP63, NIPLB, NOG, and FGFR3. We will continue to work on variety of limb defects, but most of our efforts over the next several years will be focused on further understanding the etiology and pathogenesis of syndromes characterized by congenital contractures such as clubfoot.
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