PAH BIODEF PND BIOPKU JAKEdb BH4 Literature Research

Zurich Research Team


Klinische Chemie und Biochemie

Project Leader
Prof. Dr. Beat Thony 
Phone +41 (0)44 266 76 22
beat.thony (at)

Staff Technicians
Corinne Britschgi, MS
Phone +41 (0)44 266 75 48
corinne.britschgi (at)

Anahita Rasi-Faerd, Lab Analyst
Phone +41 (0)44 266 75 52
anahita.rasi (at)


Collaborations / Cooperations

  1. Division of Metabolism, University Children's Hospital Zurich, Prof. med. Johannes Haberle and Veronique Wettstein, MS
  2. various international collaborations




Research Interests

Molecular and Gene Therapy: The goals of our projects are to develop novel molecular therapies for classical metabolic (liver) defects, including PKU as a model disease. Experimental therapies will be tested in (transgenic) animal models. Novel therapeutic approaches include (i) AAV and non-viral/minicircle-directed gene therapy for liver, (ii) splice suppression therapy and (iii) pharmacological chaperone treatment. We are applying experimental approaches involving in house technology, clinical experience, transgenic animal models, and collaborative efforts with local and international academic institutions.

Neurometabolic Diseases: Rare monogenic diseases are of substantial interest because identification of their genetic background provides important knowledge regarding disease mechanism, metabolic pathways, potential for early diagnosis and possible therapeutic targets. The goal of our research on neurometabolism is to understand specific aspects of serotonin and catecholamine neurotransmitter homeostasis and how the different pathophysiological processes in case of genetic alterations can lead to neuro-developmental abnormalities.

Prof. Dr. Beat Thšny 
Phone +41 (0)44 266 76 22
beat.thony (at) 

Dr. Hiu Man Viecelli, research assistant
Phone +41 (0)44 266 75 47
hiuman.viecelli (at)

Dr. Tanja Scherer, research assistant
Phone +41 (0)44 266 75 47
tanja.scherer (at)

Dr. Gabriella Allegri, PhD, research assistant
Phone +41 (0)44 266 75 47
gabriella.allegri (at)

Dr. Alexander Lämmle, MD/PhD research assistant
Phone +41 (0)44 266 34 82
alexander. laemmle (at)

Seraina Deplazes, BS, Human Biology Master Student
Phone +41 (0)44 266 75 47
seraina.deplazes (at)

Germaine Korner, MS, ZNZ-PhD student
Phone +41 (0)44 266 75 47
germaine.korner (at)

Lorena Gallego, PhD exchange student University Aut—noma de Madrid
Phone +41 (0)44 266 75 47
lorena.gallego (at)

Collaborations (outside University of Zurich)

Prof. Cary O. Harding, MD, Oregon Health & Science University, Department of Molecular and Medical Genetics, Portland (OR), USA

Prof. Aurora Martinez, PhD, Department of Biomedicine, University of Bergen, Norway

Prof. Lourdes Ruiz Desviat, PhD, Centro de Biolog’a Molecular Severo Ochoa, University Aut—noma de Madrid, Spain

Prof. Ian E. Alexander, Gene Therapy Research Unit, The Children's Hospital at Westmead and
Children's Medical Research Institute, Westmead NSW, Australia

Dr. Richard P. Harbottle, PhD, Section of Molecular Medicine, National Heart and Lung Institute, Imperial College London, United Kingdom


Grant support
 SNF, NIH, University of ZŸrich, Novartis, Hartmann-MŸller