The Department of Biomedicine

BBB seminar: Beat Thöny

Gene transfer and other molecular approaches for treatment of phenylketonuria (PKU)

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Beat Thöny
Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zürich, Switzerland

Contemporary dietary therapy for phenylketonuria (PKU), although preventing severe mental retardation, remains challenging to implement, and the clinical outcome is not perfect. The PKU diet is complicated to prepare, unpalatable, and requires frequent blood phenylalanine monitoring. Dietary therapy is recommended for life, but since newborn screening and early treatment of PKU only began in the early 1960s, the long term outcome of treated individuals with PKU as they age is unknown. Noncompliance with the diet is common during adolescence and adulthood leading to progressive loss of intellectual function and emotional disturbance. Poor dietary control during pregnancy leads to irreparable fetal damage including microcephaly, mental retardation, behavioral problems, and congenital heart defects, the so-called maternal PKU syndrome. For these reasons, a permanent therapy that would alleviate the need for this complicated diet is highly desirable. Enzyme replacement and gene therapy are promising novel approaches to treating PKU. The current status of preclinical studies in this field will be reviewed with emphasis on gene therapy experiments from our laboratory.

Host: Jan Haavik, Department of Biomedicine

Beat Thöny, PhD, is research group leader and responsible for molecular diagnosis in the Division of Clinical Chemistry and Biochemistry at the University Children's Hospital in Zürich, Switzerland, and has a sub-specialisation in laboratory medicine (clinical chemistry). He obtained his academic education at the Swiss Federal Institute of Technology (ETH) Zürich, and the Stanford University Medical School in California, in the fields of molecular genetics and protein biochemistry. Currently, he is lecturer in biochemistry, human genetics, and metabolic disorders and in 2005 was promoted to the position of Professor for Clinical Biochemistry at the University of Zürich. Beat Thöny's research interests are pathophysiology of tetrahydrobiopterin and monoamine neurotransmitter metabolism, including its genetic defects, as well as gene therapy for phenylketonuria.