Erik G. Puffenberger, Ph.D., received his bachelor’s degree from Swarthmore College in 1987, and his doctorate degree from Case Western Reserve University in 1996. He worked as an editorial assistant for Dr. Victor McKusick’s Mendelian Inheritance in Man (1987-1991), as a senior laboratory techician for Dr. Clair Francomano (1988-1991), and received his doctorate under the tutelage of Dr. Aravinda Chakravarti (1991-1996). Since January 1998, Dr. Puffenberger has been the Laboratory Director at the Clinic for Special Children in Strasburg, PA. The clinic is a non-profit diagnostic and research facility for metabolic and genetic disorders found in the Old Order Amish and Mennonite communities in southeastern Pennsylvania. Dr. Puffenberger’s work involves implementation of molecular genetic techniques for routine diagnosis, research into the genetics of isolated populations, development of molecular strategies for newborn screening, and identification of novel disease genes by linkage mapping.