Research Award Details

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Grant Recipient: William G Cole, MD

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In 1991, my clinical and laboratory research focused on the identification of genes causing major anomalies of skeletal development in children. Once new disease genes were identified, detailed studies were undertaken to determine the mechanisms that resulted in the clinical diseases. Many papers were published on the molecular pathology of the brittle bone disease, osteogenesis imperfect; the tissue laxity disorder, the Ehlers-Danlos syndrome; and a group of skeletal growth disorders, the chondrodysplasias. The Award funds were used to successfully solve a problem that was a major impediment to progress in the study of children with bone and cartlage disorders.
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