Public Health Remembers Newborn Screening Advocate

September 4, 2013

Originally published on Oct. 3, 2011

It is with great sadness that we share the announcement of the untimely death of a Public Health Newborn Screening Advocate, colleague, and friend to many, Dr. Paul M. Fernhoff, Associate Professor of Human Genetics and Pediatrics, on September 19, 2011. Dr. Fernhoff was an outstanding pediatrician, clinical geneticist, and respected and beloved member of both the Emory and Atlanta communities for over 30 years.

Dr. Fernhoff began his illustrious medical career at Jefferson Medical College where he was elected to Alpha Omega Alpha. He completed a pediatric residency at Children’s Hospital of Philadelphia and then moved to Atlanta where he spent two years with the Public Health Service at the Centers for Disease Control (CDC) and also completed a postdoctoral fellowship in Medical Genetics at Emory. At the completion of this fellowship Dr. Fernhoff joined the Emory faculty in 1978.

Dr. Fernhoff’s entire career was devoted to improving infant and child health. His work helped to realize widespread screening of infants in the state for a myriad of genetic diseases with therapeutic interventions. As a result, countless children survived without the consequence of severe intellectual disability. As medical director of the Lysosomal Storage Disease Center, he directed clinical trials to explore the roles of enzyme replacement and enhancement therapies for lysosomal storage diseases, a group of over 40 genetic diseases. These trials led to effective control of several of these disorders. Dr. Fernhoff was also extremely active in the greater Atlanta community. He served as Medical Director of the Atlanta Jewish Gene Screen program, an initiative which provides carrier screening and reproductive options for young Jewish adults, and Medical Director of the Pediatric Program of Hospice Atlanta, one of the largest children’s hospice programs in the country.

Throughout his career, Dr. Fernhoff remained focused not only on preventing and treating illness, but also on the ethical issues posed by genetic testing. He worked closely with local and national organizations to assess the ethical implications of introducing genetic technologies into public health programs. In 2006, he was given the Lifetime Achievement Award from the Georgia Chapter of the March of Dimes. Dr. Fernhoff’s attention to the ethical, social, and medical ramifications of his work underscores what an exemplary physician-scientist and reflective human being he truly was. His professional impact is overshadowed only by the extraordinary personal impact he had on patients, colleagues, students, and friends. His presence among us will be sorely missed.

-Reprinted with permission from Emory University School of Medicine, with minor edits for republication in PHWEEK