Center for Rare Diseases

Her daughter would like to become a doctor too, but definitely not the same kind of doctor as her mother. "She wants to be a surgeon. She says that will enable her to help people quickly and immediately by operating," says Professor Susann Schweiger. "It is often the case that for us it becomes a real challenge simply making a diagnosis. Finding a suitable treatment requires a lot of perseverance and good links to basic research.”

Schweiger is the Coordinator of the Center for Rare Diseases of the Nervous System, founded in late 2015 at the University Medical Center of Johannes Gutenberg University Mainz (JGU). Her work there is in an extremely perplexing field. "There are many diseases that we can't really do much about as we don't understand them yet." This is particularly true of diseases classified as 'rare'. "There is always a complex procedure involved before we find we can understand a disease." Diagnoses must be made and the course of the disease needs to be studied. "The trouble is that when it comes to some diseases, there are only three or four identified cases. With so few patients, it is incredibly difficult to undercover what exactly is going on, let alone develop a treatment."

Rare diseases affect 4 million people

A disease is classified as rare if it occurs in fewer than 5 in 10,000 people. There are approximately 7,000 of these diseases. But even if such diseases are rare, they affect around 4 million people in Germany alone. And if you suffer from a rare disease, you may be very unlucky in the early stages because many patients end up being referred from doctor to doctor before the cause of their symptoms is deduced. Insurance companies are often inflexible in dealing with such special cases and if appropriate medication exists, it is often not yet commercially available.

To try to remedy this situation, the Federal Ministry of Health and the Federal Ministry of Education and Research, along with the ACHSE Association (Alliance for Chronic Rare Diseases), launched the Action Network for People with Rare Diseases (NAMSE) in 2010. The action plan developed by this group of institutions involves the creation of a national network of centers specializing in rare diseases.

Three different types of centers are envisaged. At the forefront are the type A centers that bring together all the specialized skills. Most of these are to be found in university hospitals, like the ZSEN in Mainz. "The type A centers are designed to act as a form of umbrella organization," explains Schweiger. "Type B centers will be drop-in centers for specific diseases. And type C centers will provide out-patient care."

Gene sequencing provides new insights

The ZSEN specializes in rare diseases of the nervous system. As part of JGU, it is a member of the Focus Program Translational Neurosciences (FTN) at the Mainz University Medical Center and the Rhine-Main Neuroscience Network (rmn²), a large association of research institutions in Frankfurt and Mainz, to which the universities and university hospitals of both cities belong. In addition, the ZSEN works closely with the Frankfurt type A center. "They have a broader range of specializations whereas we have specific expertise in neurology. For example, we have a specialist center for Huntington's disease."

These links are a great asset to the ZSEN. Doctors from very different specialties work closely together here. "Basic researchers are able to exchange ideas with those carrying out clinical research. In recent years, rmn² has enabled us to develop a network of colleagues whose combined skills represent incredible creative potential."

Schweiger is the Director of the Institute of Human Genetics at the Mainz University Medical Center. She elucidates: "About 80% of rare diseases are genetically determined. Modern methods of gene sequencing mean that we can gain brand new insights when it comes to diagnosing conditions. We have never before had such a wonderful opportunity to understand and diagnose rare diseases. We are now able to analyze genetic material in large quantities and to identify the links between rare diseases and individual defective genes."

Raising public awareness

Nevertheless, the procedure is relatively time-consuming and does not come cheap. "It takes some 8 months to analyze a single genome and the total costs, both for analysis and interpretation, amount to about €4,000. After sequencing, we first have to analyze the information material we have obtained. We carry out searches across international databases and in the literature for any clues that a particular disease might be associated with a specific genetic variant."

Many insurance companies are hesitant to fund this kind of research. "They often don’t understand that a rare disease is exactly that: rare. Even if they agree to fund the sequencing procedure, it doesn't necessarily mean that they will find the money to pay for other things. With rare diseases, we're always talking about isolated cases."

Greater public awareness of these isolated cases is still needed, however, and this is another of the ZSEN's objectives. "We have to make people more aware of rare diseases. To do this, we also need the assistance of the patients themselves and of patient support groups."

A lack of sympathy

Insufficient sympathy is often extended towards those with abnormalities caused by rare diseases because these latter can too easily go unrecognized. Schweiger cites the example of the pressure exerted on the parents of children who exhibit disturbed behavior patterns. "When such a child starts disrupting routine at school or a day care center, it is the parents who are automatically considered to be at fault. They are accused of letting their child watch too much TV or not disciplining them correctly; in any case, they, the parents, are doing something wrong. When the condition is diagnosed, possibly through identification of the defective gene, many parents are hugely relieved to learn that it's a disorder we can diagnose and for which we may be able to find a treatment - a disorder that can affect other children and for the development of which the parents cannot be blamed."

Schweiger is convinced that the ZSEN is a big step in the right direction. "Mainz is an outstanding hub." At present, the center functions most importantly as a platform enabling specialists from all areas to exchange ideas and thus as a generator of progress. It sends out the message to patients with rare diseases that they can bring their health problems and needs to the center and receive as much help as is possible.

Now that the ZSEN has thrown open its doors, it needs to encourage as many people in as it can - patients and politicians, sponsors and pharmaceutical companies - to make it possible to treat patients, diagnose diseases and develop new medications. Only this will enable the center to grow and continue making more people aware of rare diseases.