Dr. Richard I. Kelley is the Director of the Clinical Mass Spectrometry Laboratory at Kennedy Krieger Institute. He is also an Professor of Pediatrics at Johns Hopkins University.
Dr. Kelley received his undergraduate education at the University of Pennsylvania, where he remained for completion of the MD and Ph.D. degrees. At Children's Hospital of Philadelphia, he undertook training in general pediatrics followed by a fellowship in clinical genetics. He then joined the faculty of the Division of Metabolism at Children's Hospital of Philadelphia in 1982 before moving to Kennedy Krieger Institute and the Department of Pediatrics at Johns Hopkins in 1987.
Dr. Kelley's research has focused on the elucidation of the biochemical basis of genetic disorders. Through the application of various techniques of biochemical analysis but especially mass spectrometry, Dr. Kelley has discovered the biochemical cause, and thereby the genetic etiology, of more than a dozen different diseases. Following early work delineating the chromosomal defect in DiGeorge syndrome, new inborn errors of fatty acid oxidation, new peroxisomal diseases, and the biochemical basis of various neuromuscular disorders, Dr. Kelley's studies have more recently turned to disorders of cholesterol biosynthesis. Dr. Kelley also serves as consulting geneticist to the Clinic for Special Children in Strasburg, PA, where his work has led to the identification of the biochemical basis of known and previously unknown genetic disorders common among the Amish and Mennonites of Lancaster County, PA.
Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser AM, Rimoin DS. Abnormal sterol metabolism in patients with Conradi-Hünermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Amer J Med Genet 1999 83:213-219.
Grange DK, Kratz LE, Braverman NE, Kelley RI. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8,delta7-isomerase. Amer J Med Genet 2000;90:328-335.
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schaeffer AA, Francomano CA, Biesecker LG. Amish Nemaline Myopathy: A novel neuromuscular disease caused by a mutation in Troponin T. Am J Hum Genet 2000;67:814-821.
Kelley RI, Hennekam RCH. Smith-Lemli-Opitz Syndrome and other disorders of Cholesterol biosynthesis. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, New York: McGraw Hill, 2000 ch 249, 6183-6201. Kelley RI. Genetic Disorders of Cholesterol Biosynthesis. Advances in Pediatrics 2000;47:1-53
Waterham HR, Koster J, Jan Romeijn G, Hennekam RCM, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJA. Mutations in the 3beta-Hydroxysterol delta24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis. Am J Hum Genet 2001;69:685-694.