Center of Excellence
Badet-Biedl-Syndrom
Bardet-Biedl syndrome is rare, but is often referred to as a model ciliopathy due to its involvement of various organs and serves as the scientific starting point for our research ideas at the BBS Centre of Excellence.
The CoE is dedicated to researching the connections between endocrinology, genetics, neuroscience and metabolism, in particular their regulation via melanocortin receptor signalling pathways in healthy individuals and in common and rare diseases from the ziliopathy spectrum.
In addition to providing clinical care for children and adults with Bardet-Biedl syndrome and related ciliopathies, the BBS CoE also aims to better understand the molecular basis of these complex diseases and to develop improved, personalised therapeutic approaches. The BBS CoE, part of Essen University Hospital, is supported by the University of Duisburg-Essen and Rhythm Pharmaceuticals.
Publications
Here are the most important publications in which the BBS CoE played a leading, cooperating or supporting role, listed chronologically with links. The BBS CoE supports the Open Access Policy with the aim of making scientific knowledge freely available to all interested parties.
Conferences
Here you will find past and future dates and information on regular national and international case conferences, patient information days and scientific conferences organised by the BBS CoE.
Videos
With the support of the NEOCYST project funded by the Federal Ministry of Education and Research (BMBF), short informational videos on Bardet -Biedl syndrome, which provide both a medical and scientific insight into this model ciliopathy and highlight the everyday life, medical care and collaboration with research from the perspective of those affected and their families.
Badet-Biedl-Syndrom · Center of Excellence
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Badet-Biedl-Syndrom · Center of Excellence
Our Team
Our interdisciplinary team at the Centre of Excellence for Bardet-Biedl Syndrome is dedicated to providing comprehensive care for patients with this and related rare genetic disorders. Doctors from various disciplines work together with specialised nurses, therapists, scientists and coordinators to optimally integrate diagnostics, therapy and research. Through our close cooperation and exchange with international expert groups, we are able to provide long-term support and individual advice to those affected and their families, and to incorporate the latest scientific findings into our care.
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Dr. med. Metin Cetiner (Leitung CoE BBS) -
Christiane Schäfer -
Dr. rer. nat. Johannes Jägers (Koordination Grundlagenforschung) -
Dr. med. Lars Dinkelbach (Stellvertretende Leitung, Koordination CoE) -
Dr. med. Tom Hühne (Stellvertretende Leitung, Koordination Medizin) -
Emma Steidel (Studienärztin) -
Dr. med. Ilja Finkelberg (Koordination Bildgebung) -
