Dr. Puffenberger received a B.A. in biology from Swarthmore College in 1987, and a Ph.D. in human genetics 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 Ph.D. under the direction of Dr. Aravinda Chakravarti (1991-1996). He joined the clinic staff in January 1998, and became Laboratory Director in 2000.

 

Dr. Puffenberger was raised in Elizabethtown, Pennsylvania. His father was an ordained minister in the Church of the Brethren and taught religion and philosophy at Elizabethtown College. His mother was born and raised in the Shenandoah Valley of Virginia and is descended from many Mennonite pioneer families. From an early age, Erik was interested in genealogy and spent many hours as a teenager at the Lancaster Mennonite Historical Society. This early interest developed into a strong passion for genetics, which was his favorite area of study at Swarthmore College.

 

After college, he could not decide whether to attend medical or graduate school, so he chose to spend a gap year working in the field of genetics to help him select a career path. In 1988, he accepted a position with Dr. Victor McKusick as an editorial assistant for Mendelian Inheritance in Man, a catalogue of human genetic diseases and traits. That gap year at Johns Hopkins Hospital turned into a four-year experience which also included genetic research in the laboratory of Dr. Claire Francomano. One of the projects he worked on during this time was the first description of fibrillin gene mutations as a cause of Marfan syndrome. The research of Drs. McKusick and Francomano focused significantly on the Amish of Lancaster County. As such, Erik spent many hours compiling Amish pedigrees for these studies, and frequently accompanied the researchers on field trips to Pennsylvania and Ohio. These experiences helped cultivate his interest in founder populations. *“Clinic for Special Children Staff Listing,” https://clinicforspecialchildren.org/staff/erik-g-puffenburger-phd/  (accessed December 27, 2018)