Robin Elliot

Ruthann Pfau, PhD

Director of Cytogenetics
Assistant Professor

Mailing Address:
10524 Euclid Ave.
Cleveland OH 44106

Phone: (216) 983-1134
Fax: (216) 983-1144
email: ruthann.blough-pfau@uhhospitals.org

Biography

Ruthann Blough Pfau earned a B.S. in Biological Sciences from Wright State University in Dayton, Ohio. She continued on at WSU to study the behavior of cells in an artificial skin prototype while earning an M.S. in Biological Sciences. During this time, she volunteered at the Department of Medical Genetics and Birth Defects at Dayton Children’s Medical Center, where she developed her interest in clinical genetics and genetics diagnostics. She went on to study at Indiana University’s Indianapolis medical campus, completing her PhD in Medical and Molecular Genetics with a dissertation on cytogenetic and molecular cytogenetic studies of recurrent and residual male germ cell tumors. During her time in Indiana, Ruthann pursued another interest, becoming a board-certified genetic counselor and working part-time as a prenatal genetic associate. From Indianapolis, Ruthann went on to Cincinnati Children’s Hospital Research Foundation, where she completed a post-doctoral fellowship in clinical cytogenetics leading to ABMG certification, and stayed on to run the cytogenetics laboratory for several years. During this time, she collaborated with Jack Rubinstein MD and researchers from The Netherlands in characterization CREBBP gene deletions in children with Rubinstein-Taybi syndrome. In 2003 she transitioned to Dayton Children’s Hospital, where she combined her interests in genetic counseling and laboratory diagnostics, staffing clinics as a genetic counselor while starting a cytogenetics service laboratory. In 2012, Ruthann joined Nationwide Children’s Hospital‘s Department of Pathology and Laboratory Medicine for a 1-year fellowship in clinical molecular genetics, and successfully passed the ABMG clinical molecular genetics exam in 2013.

Areas of Interest

Ruthann’s research interests include phenotype-genotype correlation in genomic disorders, integration of new technologies into the genetic diagnostic laboratory, and genetics education.