Steven B. Bleyl

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Since completing an M.D./Ph.D focused on the genetics of human congenital heart defects, Dr. Bleyl maintains an active role in the study of the genetic causes of these birth defects, which affect as many as 1 in 100 live born children and weigh heavily on society both in their effect on society and in their impact on patients and families. In 2006 he received an NIH K08 award to study congenital defects of the pulmonary veins in humans and in a mouse model. This work identified defects in regulation of the PDGFRA gene as cause for human total anomalous pulmonary venous return (TAPVR). Currently, Dr. Bleyl’s research uses genetic mapping in extended Utah families and next-generation sequencing techniques to identify new genetic risk factors for congenital heart defects and other birth defects. His clinical practice mirrors his research, with a focus on heart defects, but also with specialization in hearing loss. In other academic pursuits, he is a lecturer in Embryology and is an author of Larsen’s Human Embryology (4th edition).