Joel Charrow, MD
Professor of Pediatrics
Feinberg School of Medicine
Division Head, Genetics, Birth Defects and Metabolism
Children's Memorial Hospital
Faculty Biography:
Dr. Charrow is the director of the Division of Genetics, Birth Defects and Metabolism and the Genetics Laboratory at Children’s Memorial Hospital. His clinical interests are mainly in the areas of biochemical genetics (inborn errors of metabolism), neurofibromatosis, and skeletal dysplasias. He is co-director of the Neurofibromatosis Clinic and the Skeletal Dysplasia Center at Children’s Memorial and director of the Comprehensive Gaucher, Fabry and Pompe Disease Programs at Children’s Memorial. Dr. Charrow’s research interests include studying the natural history of genetic disorders, with concentration on neurofibromatosis, Gaucher disease and other lysosomal storage disorders, developing optimal strategies for treating lysosomal storage diseases, and studying the methods and pitfalls of population screening for genetic disorders.
Selected Publications:
Grabowski GA, Kacena K, Hollak CEM, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom. (2009). Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet in Med. (in press.)
Charrow, J., Dulisse, B., Grabowski, G. A. and Weinreb, N. J. (2007). The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet 71, 205-11.
Germain, D. P., Waldek, S., Banikazemi, M., Bushinsky, D. A., Charrow, J., Desnick, R. J., Lee, P., Loew, T., Vedder, A. C., Abichandani, R. et al. (2007). Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. J Am Soc Nephrol 18, 1547-57.
Listernick, R. and Charrow, J. (2004). Knowledge without truth: screening for complications of neurofibromatosis type 1 in childhood. Am J Med Genet A 127A, 221-3.
Charrow, J., Andersson, H. C., Kaplan, P., Kolodny, E. H., Mistry, P., Pastores, G., Rosenbloom, B. E., Scott, C. R., Wappner, R. S., Weinreb, N. J. et al. (2000). The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med 160, 2835-43.
