March 17, 2014
In a rare look back in time, we’re given a glimpse into the early research and community outreach of Harry A. Waisman, MD, PhD, one of the lead researchers of Phenylketonuria (PKU), an inherited condition caused by an accumulation of the amino acid phenylalanine. Detected early, PKU can be treated effectively by a low-phenylalanine diet. Untreated, PKU can cause severe developmental disability.
In 1963, Dr. Waisman, then Medical Director of the Joseph P. Kennedy, Jr. Memorial Laboratories, and starred in an informational film to introduce the public to PKU, its prevalence, how to diagnose it and the impact of the disease not only on the individual but also on society.
The film features siblings Kay and Keith Emerson who were both diagnosed with PKU in the 1950s. Kay still receives treatment for PKU at the Waisman Center today.
Through his advocacy and research, Dr. Waisman helped inform our understanding of PKU. He formulated a simple test urine test to screen for the disease and later, he was an outspoken proponent of mandatory newborn screening for PKU involving a heel prick.
“The detection of this disease is not only good medical practice; it is the professional and social responsibility of all physicians who see children,” says Dr. Waisman at the conclusion of the film.
PKU research at the Waisman Center continues today. Denise Ney, PhD focuses her research on the nutritional management of PKU. Ney leads a study examining how PLU patients tolerate a diet of foods made with when protein.
“Denise’s research carries forth the legacy of Harry Waisman through prevention of disability via screening, early identification and dietary treatment,” says Marsha R. Mailick, PhD, Waisman Center Director.
Click on the image below to view the video.