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New Centre for Rare Diseases established at the University of Heidelberg

The “Centre for Rare Diseases” (ZSE) at the University of Heidelberg brings together doctors and scientists from a broad range of different disciplines to work with experts in Germany and around the world. The ZSE was officially opened on 15th April 2011 in the presence of Eva Luise Köhler, patron of the German Alliance of Rare Chronic Diseases, and Marlene Rupprecht, chairperson of the “Children’s Commission of the German Bundestag”.

A disease is defined as rare in Europe when it affects less than five in 10,000 people (prevalence of 0.05 per cent). It is believed that there are around 9,000 rare diseases, of which around 6,000 have been described. Although only a small number of patients is affected by any one of these diseases, the overall number of people suffering from rare diseases is nevertheless relatively high: six to eight per cent of the German population (around four million people in Germany) suffer from rare diseases, which are often chronic and life-threatening.

Specialist point of contact for appropriate diagnosis and treatment

Around 80 per cent of all rare diseases are of genetic origin. No causal treatment is yet available for the majority of rare diseases; they cannot be cured and can only be treated symptomatically and often only inadequately, if at all. Rare diseases mainly affect children and adolescents. Due to their limited prevalence, doctors often lack comprehensive knowledge about individual rare diseases, which potentially results in erroneous diagnoses and ineffective therapies. "Patients and their relatives often experience a true odyssey; despite consulting many doctors at many different hospitals, it often takes a long time before an accurate diagnosis of the disease is made,” explains Professor Dr. J. Rüdiger Siewert, Chief Medical Director of the University Hospital of Heidelberg. “The new "Centre for Rare Diseases" in Heidelberg will contribute to such people receiving qualified help at an earlier stage than is currently possible.”

Eva Luise Köhler and Prof. Dr. J. Rüdiger Siewert (right) and Prof. Dr. Georg F. Hoffman during the symposium marking the official opening of the Centre for Rare Diseases at the University Hospital of Heidelberg on 15th April 2011. © University Hospital Heidelberg

With the establishment of the “Centre for Rare Diseases” (ZSE) at the University Hospital of Heidelberg, the hospital has created a specialist point of contact for patients with rare diseases, their relatives and treating doctors. The ZSE brings together specialist doctors and scientists from many different disciplines in order to provide diagnosis and treatment according to state-of-the art scientific knowledge as well as comprehensive care. A symposium was held to officially open the ZSE on 15th April to which Eva Luise Köhler, patron of the “Alliance of Chronic Rare Diseases” (ACHSE e.V.) and chairperson of the “Eva Luise and Horst Köhler Foundation, and Marlene Rupprecht, chairperson of the “Children’s Commission of the German Bundestag” were invited as honorary guests. Professor Dr. med. Prof. h.c. (RCH) Georg F. Hoffmann, Director of the Centre for Paediatric and Adolescent Medicine at the University Hospital of Heidelberg, is the spokesperson of the five-member steering board. Ongoing ZSE projects are coordinated by Dr. Pamela Okun who also acts as primary contact for patients and their referring doctors.

Partner of Kindernetzwerk e.V.

Examination of a small patient by Dr. Thomas Opladen in the outpatient hospital for children with metabolic diseases at the ZSE. © University Hospital Heidelberg

The centre brings together all expert knowledge in the field of rare diseases available in Heidelberg and ensures that the resources, which include a central patient registry and a biobank with blood and tissue samples, as well as the equipment at the University Hospital of Heidelberg, are used in the best possible way. Heidelberg is one of three competence centres for rare diseases in Germany, and as such is the primary contact for Kindernetzwerk e.V., the German umbrella organisation for parent self-aid groups. “We are very pleased to expand our excellent long-term cooperation with the University Hospital of Heidelberg within the framework of the new centre,” said Professor Dr. Hubertus von Voss, chairman of Kindernetzwerk e.V., an organisation which was established around twenty years ago to support parents with children and adolescents with chronic diseases, handicaps or rare diseases. The interdisciplinary team of doctors in Heidelberg is there to fall back on when the address database and the network’s experts have done all they can; in such cases, the Heidelberg team doctors then provide comprehensive diagnosis and advice as well as facilitate the contact between the patients and their parents with specialists close to the patients’ hometown.

In her speech, Eva Luise Köhler said that she hoped that “more networks such as those initiated by university hospitals” would be established, that research into rare diseases would be driven forward and that the wider public, science and the pharmaceutical industry would become more aware of the “orphans of medicine”, her term for children with rare diseases. Marlene Rupprecht called for more research and more drugs for the treatment of rare diseases, in particular for children, for whom better treatment and care could be achieved by raising public awareness of rare diseases. The pharmaceutical industry has long regarded the development of drugs for the treatment of rare diseases as somewhat unattractive due to the small number of patients affected. This attitude is now changing, in particular due to the benefits accorded by European and American regulatory authorities for the development of what are referred to as orphan drugs. The Internet portal “Orphanet” has been established to provide comprehensive information about orphan drugs, and the diagnosis, care and treatment of patients with rare diseases, and is available to the public free of charge. The portal is managed by more than 100 internationally renowned experts.

Centre for research and education on rare diseases

One of the major goals of the ZSE in Heidelberg is to work in close collaboration with partners in Germany and around the world to drive forward research into rare diseases, their causes and treatment possibilities. A key focus is the rapid transferral of new findings on the development and progression of rare diseases into new diagnostic and therapeutic approaches. Patients can take part in clinical studies carried out to assess effective treatment of a broad range of indications.

Michael, a small cystic fibrosis patient treated at the ZSE. © University Hospital Heidelberg

In addition, the centre also promotes education and further training in the field of rare diseases for students, care personnel and doctors at the University Hospital of Heidelberg as well as doctors in the region.

The ZSE brings together ten University Hospital of Heidelberg centres that specialise in particular fields of indication, including the Cystic Fibrosis and Amyloidosis Centre, the Centres for Genetic Metabolic Diseases and Genetic Renal Diseases as well as the Centre for Rare Tumour Diseases. Information on the diagnosis and therapy of rare diseases and research carried out at the ten individual centres, along with information on who to contact, is provided on the ZSE’s website (see link). Depending on the afflictions patients present with or listed by the treating doctor, the patients are directed by the centre’s coordination office to one or other of the ten centres involved. “If we come to the conclusion that a certain rare disease cannot be adequately diagnosed and treated at our centre, we will then contact colleagues at other university hospitals,” said Professor Hoffmann, spokesperson of the Centre for Rare Diseases at the University Hospital of Heidelberg.

Further information:
Dr. Pamela Okun, Coordinator
Centre for Rare Diseases (ZSE)
Medical Faculty
University Hospital Heidelberg
Tel.: +49 (0)6221-56 4503
E-mail: Seltene.Erkrankungen(at)med.uni-heidelberg.de

Website address: https://www.gesundheitsindustrie-bw.de/en/article/news/new-centre-for-rare-diseases-established-at-the-university-of-heidelberg