The University of Basel has a long history of excellence in Life Sciences. In particular, the Biozentrum, founded in 1971, was among the first institutions world-wide dedicated to molecular biology and is currently an interdisciplinary institute working in fields from fundamental to applied research. It is the founding institute for MyoContract (now Santhera Pharmaceuticals Ltd) and hosted the company at its early stages (until 2002).

Work on neuromuscular junction and neuromuscular diseases has a long tradition at the University of Basel, the University Hospital and nearby institutes of NGO. Research focuses on the mechanisms important for neuromuscular function with a particular emphasis on mouse models. Some groups are concerned with mechanisms important for muscular dystrophies and for neuron degeneration. In particular, the laboratory of Markus A. Ruegg is engaged in developing therapeutic approaches for the treatment of congenital muscular dystrophy. Important achievements in his group related to muscular dystrophy are “proof-of-concept” studies in mice that might open new possibilities for the treatment of congential muscular dystrophies.

The Biozentrum is the leader of Workpackage 7.2 (Select appropriate mammalian animal models). The main objective of WP 7.2 is to help overcome the fragmentation currently hindering preclinical drug therapy tests. Pre-clinical research is the first step in the identification and development of new therapeuticals. These have to be tested in animal models that reflect the human disease as closely as possible before they can be tested in patients (clinical trials) and finally become approved for general medical use. However, several species with different genotypes are currently in use and these animal models do not always show the exact same symptoms of disease and responses to therapy as humans. The goal of this workpackage is to select those mammalian models that best represent the human disease and that are most promising for the identification of effective therapies, thereby setting a first step in the harmonization and comparability of pre-clinical results.

Website

 http://www.biozentrum.unibas.ch/rueegg/index.html

Prof. Markus A. Rüegg has a track record as researcher in basic research addressing the development and function of the neuromuscular junction and mechanisms of neuromuscular diseases. Has authored more than 60 publications in major journals such as Nature, Nat. Cell Biol., Neuron, J. Cell Biol., EMBO J. and is inventor on 4 patents. Invited speaker to EMBO and ENMC Workshops, Gordon Research Conferences, to the World Muscle Society and several additional major meetings in the filed. Co-founder of MyoContract. He is the scientific representative of the University of Basel in the TREAT-NMD Governing Board.

Dr. Raffaella Willmann studied Biology in Italy and obtained her PhD in Biochemistry in Konstanz (Germany). After a first post-doc position in muscle physiology in Konstanz, she joined the group of Prof. Fuhrer in at the University of Zürich in 2000. There, she worked on a project on the formation and stabilization of the neuromuscular junction. She joined TREAT-NMD on March 1st, 2007 as scientific writer and Activity coordinator.

Dr. Shuo Lin, has a long-standing interest in muscular dystrophies. He worked previously with Prof. J.-M- Burgunder (Berne, Switzerland) on the function of utrophin and is currently involved in generating mouse models to test treatment options for Duchenne muscular dystrophy. He has authored more than 20 publications.

Dr. Sarina Meinen’s main project concerns the development and realization of treatment options for MDC1A. She is currently involved in the testing of anti-apoptosis and replacement therapies for the treatment of MDC1A. In addition, she will evaluate whether losartan, an angiotensin II type 1 receptor antagonist that is widely used in clinics to treat hypertension, offers a new interesting entry point for the treatment of MDC1A patients. These studies are mainly done in mouse models for the disease.

MSc. Conrad Florian Bentzinger started his studies in the laboratory of Markus Rüegg in 2003 as a master student. In his PhD, he is interested in the molecular regulation of skeletal muscle mass with the goal to identify new approaches for the treatment of muscle diseases. He is currently investigating the mTOR signalling pathway in skeletal muscle.

MSc. Claudia Escher works as a PhD student on protein-based diagnostic methods. She currently establishes an analytical method to find surrogate markers in primary human muscle cells with the aim to facilitate diagnosis of DMD/BMD on a microarray platform. This work is done in collaboration with the University of Applied Sciences in Northwestern Switzerland.

MSc. Marcin Maj studied Biology in Krakow, Poland. He works as a PhD student on agrin/MuSK signalling at the NMJ. His main interests include signalling at the NMJ as well as in diseases affecting these signalling pathways (myasthenia gravis and myasthenic syndromes).

 Manuela von Arx is a technician and takes care of our mouse colony.