Treatment and research of rare diseases of the nervous system bundled under one roof
08.01.2016
About four million people in Germany suffer from a rare disease. A disease is classified as rare when it affects less than five of 10,000 people. In order to sustainably improve the situation of those affected, the Mainz University Medical Center has established the Center for Rare Diseases of the Nervous System, officially opened in the presence of the Chairman of the Board of Directors of the Mainz University Medical Center and State Secretary in the Rhineland-Palatinate Ministry of Education, Science, Further Education and Culture, Professor Thomas Deufel. The interdisciplinary research and treatment center bundles the clinical care of patients with rare diseases and unclear diagnoses of the nervous system and closely links it with research and teaching.
Experts assume that there are approximately 7,000 different rare diseases. Often the nervous system is involved and other organ systems may well be affected as well. Numerous rare diseases are difficult to diagnose, and treatment requires the interdisciplinary collaboration of various experts. Because approximately 80 percent of the rare diseases are genetic, it is, for example, very important that specialists of various clinical disciplines, such as pediatrics, neurology, psychiatry, pediatric and adolescent psychiatry, ophthalmology, or ear, nose, and throat specialists are supported by specialists in human genetics.
The new Center for Rare Diseases at the Medical Center of Johannes Gutenberg University Mainz (JGU) bundles clinical experience in particular in the area of the nervous system. It will create an infrastructure which enables better recognition, diagnosis, and treatment of rare diseases with manifestations in the nervous system according to international standards. The rare diseases treated at the new Mainz-based center include, for example, neuromuscular diseases, genetic epilepsy, and systemic metabolic disorders with partial or exclusive neuropsychiatric symptoms as well as mitochondriopathies, which are expressed as disorders of metabolism through functional affectations of the cellular power plant.
Advancement of diagnosis, treatment, and research
"Patients with rare diseases and their families are confronted with high strain. Frequently patients have a multiple year odyssey behind themselves by the time the correct diagnosis is made. The new Center for Rare Diseases of the Nervous System in Mainz is meant to contribute to the advancement of diagnosis, treatment, and research so that these people get help," said the Chairman of the Board and Medical Director of the Mainz University Medical Center, Professor Babette Simon.
The Chairman of the Board of Directors of the Mainz University Medical Center and State Secretary in the Rhineland-Palatinate Ministry of Education, Science, Further Education and Culture, Professor Thomas Deufel, added: "Rare diseases are often hidden diseases. The patients and their special clinical picture need the attention of doctors and researchers alike, and they need input particularly from the university medical centers. With the opening of the new Center for Rare Diseases of the Nervous System, the Mainz University Medical Center is accepting this task in a special way. Scientists involved in the new center provide their internationally recognized clinical and scientific expertise in neurosciences. The Mainz University Medical Center aims to make a visible contribution to the improvement of the treatment of the patients – and not only here in Mainz."
"Conditions for excellent research in the newly established center couldn't be better. The close interconnection between the Center for Rare Diseases of the Nervous System and the Mainz University Medical Center within the research landscape of the Rhine-Main Neuroscience Network and the immediate embedding into the Research Center for Translational Neurosciences of Mainz University are unique in Germany", said Professor Ulrich Förstermann, Chief Scientific Officer of the Mainz University Medical Center.
The Director of the Institute of Human Genetics of the Mainz University Medical Center and spokesperson of the new Center for Rare Diseases of the Nervous System, Professor Susann Schweiger, emphasized that the advancement in treatment of rare diseases largely depends on the patients. "Our patients play a key role on the path to innovative diagnosis and treatment options. Only through them we can better understand rare diseases. We therefore ask all of our patients to actively support our research." Patients support groups, which are also of central importance to the new center, supplement the professional medical care by offering patients the opportunity of exchanging experiences and mutual help.
National Plan of Action for People with Rare Diseases
As provided in the National Plan of Action for People with Rare Diseases, the new center in Mainz is a so-called type A center. Centers of this category are mostly based at university medical centers. The center in Mainz is meant to be the reference center for rare diseases in Rhineland-Palatinate and, in close interaction with the Frankfurt Reference Center, for the Rhine-Main Region. The center will initially be made up of ten type B centers, which offer both inpatient and outpatient care. After the establishment of the type B centers, there will be step by step additions of cooperative centers as type C centers. These type C centers work on the periphery and are to take over the local care of the patients.