Walter Miller, MD

Distinguished Professor of Pediatrics

Dr. Miller’s research concerns human steroid hormone biosynthesis. His laboratory has cloned the genes for many steroidogenic enzymes and associated factors and delineated the genetic basis of numerous diseases, including congenital lipoid adrenal hyperplasia, isolated 17,20 lyase deficiency, a severe recessive form of Ehlers-Danlos Syndrome, vitamin D-dependent rickets, P450scc deficiency, Antley-Bixler Syndrome, the nephrogenic syndrome of inappropriate antidiuresis, and numerous defects causing congenital adrenal hyperplasia. Present efforts are primarily directed toward the signal transduction pathway that results in the phosphorylation of P450c17 (the product of the CYP17A1 gene), which selectively increases its 17,20 lyase activity and consequently regulates androgen synthesis.