2017 Research Awards
Dr. Katherine Durrer-Deming at the University of North Texas is continuing her research into the ability of a genetically engineered probiotic to lower blood Phe levels in PKU mice.
Dr. Roberto Gramignoli at the Karolinska Institutet in Stolkholm, Sweden is focusing in cell-based therapies to correct metabolic defects.
Dr. Cary O. Harding at the Oregon Health & Science University, is continueing to research gene therapy as a promising approach to cure PKU.
Dr. Eileen K. Jaffe at the Fox Chase Cancer Center is studying how structure changes in the phenylalanine hydroxylase enzyme (PAH) ensure the control of phenylalanine (Phe) concentration.
Dr. Robert Nicholls is Professor of Pediatrics in the Division of Medical Genetics at Children’s Hospital of Pittsburgh of UPMC. Last year, NPKUA funding created the first PKU pig animal model using ge-nome editing. This year Dr. Nicholls and his colleagues will breed pigs that are genetic PKU carriers and ones that have PKU to establish breeding stock and obtain sufficient offspring for experimental and control groups of animals for in depth studies.
Dr. Francjan van Spronsen, Professor of Pediatrics at the University of Groningen, Netherlands, will focus on finding the difference towards personalized PKU treatment.
Dr. Susan Waisbren at Boston Children’s Hospital, will use new techniques to potentially close one of the most important gaps in the knowledge of PKU, namely to define how PKU affects the brain.
Dr. Dong Yizhou is Assistant Professor at Ohio State University. Dr. Yizhou hypothesizes that gene corrections to PAH will produce a functional PAH protein and recover the metabolic process, resulting in a cure for PKU.
Click here for full summaries of the 2017 research projects.