PHILADELPHIA (March 21, 2018) — Eileen K. Jaffe, PhD, professor of molecular therapeutics at Fox Chase Cancer Center, has earned a renewal of her research grant from the National PKU Alliance. Jaffe’s lab collaboratively applies molecular biology, biochemistry, and various biophysical techniques to seek ways to repair certain dysfunctional enzymes.
Phenylketonuria (PKU) is a rare inherited metabolic disorder that is characterized by the inability of the body to utilize the essential amino acid, phenylalanine (Phe). It is most often caused by a deficiency of the enzyme phenylalanine hydroxylase (PAH). Excess Phe is toxic to the central nervous system and can cause severe health problems such as seizures, developmental delays, behavioral problems, psychiatric disorders, and permanent intellectual disability.
In 2016 Jaffe achieved a major breakthrough by solving the structure of PAH, which brought the field closer to being able to develop new drug therapies to treat PKU. Presently, it is treated primarily through a life-long restrictive diet.
Jaffe’s work has implications for drug discovery across a range of diseases. “Identifying and solving structure-function relationships of proteins opens up new therapeutic targets for PKU and cancer alike, because both are the result of proteins not functioning as expected,” she said.