Platform for rare diseases founded

Platform for rare diseases founded

27.04.2011

Rare diseases are still severely neglected in conventional medicine. For the pharmaceutical industry, intensive research in the field of rare diseases usually promise no economic benefits. In order to provide affected patients with an exchange of knowledge and experience, employees of the Chair of Business Informatics at the Friedrich Alexander University in Erlangen-Nürnberg have one „Online platform for rare diseases“ founded. Around four million people in Germany suffer from rare and sometimes poorly-researched diseases.

Together for the Rare
Staff of the Friedrich Alexander University have the initiative „Together for the Rare“ launched in order to offer patients and family members a comprehensive exchange of knowledge in the form of an Internet forum. Because, counted together, not a few people experience the fate of a rare disease. Rare diseases (engl. „orphan disease“) are, according to the definition of the European Union (EU), diseases that affect less than 2000 people nationwide (Formula 5 of 10,000 people). Each disease affects only a small fraction of the total population. In Germany, around 4 million people suffer from such a disease. EU-wide, according to expert estimates, there are around 36 million patients. In 80 percent of the cases, the diseases are provoked by congenital genetic defects. Such genetic dispositions include, for example, vitreous bone disease, cystic fibrosis, progeria (early senescence) and amyotrophic lateral sclerosis (degenerative disease of the motor nervous system). These diseases usually occur in early childhood.

Diseases are often discovered late
Especially children are afflicted by mostly incurable diseases. Until the cause of the disease was discovered, many children and parents have a veritable odyssey of various visits to the doctor behind them, because many physicians are initially overwhelmed and at a loss. It often takes several years to actually make an actual diagnosis. But even after the diagnosis, patients are left alone with their needs, fears and worries. Most research institutions in the pharmaceutical industry show little interest in extensively researching these sometimes serious illnesses, because there is no financial interest for the companies due to the low number of patients. The less people are afflicted by a disease, the lower is the sales volume for pharmaceuticals. The Pharmalobby justified their restraint mostly with the unequal ratio of research financing and later sales market of medicines.

So far, about 30,000 diseases have been scientifically discovered worldwide, including about 8,000 rare diseases, but in some cases little further research. The initiative „Together for the Rare“ seeks to improve the quality of life of rare disease patients by activating both affected and non-affected people. at „Together for the Rare“ On the one hand, they are looking for problems that those affected have to contend with in daily life and, on the other hand, solutions to overcome these problems. These solutions come from other sufferers, relatives - and all the others who want to help: Together for the Rare!“

Who may join „Together for the Rare“ participate?
At the design of the forum „Together for the Rare“ Anyone can join to help sufferers of rare diseases. The initiative aims to bring together patients, relatives, carers, physicians, scientists, therapists and educators. Because many sufferers and relatives often have to think about solution strategies themselves in everyday life, these empirical values ​​could also help other patients. In addition, physicians and scientists should be given the opportunity to work together with the patients to find strategies and share already experienced ones. Patients can also meet fellow sufferers and find specialists. For many people, the new platform could provide a way to ensure their own survival, as fellow patients or experts report on new treatments or therapeutic approaches. The new online platform could be another step towards helping sufferers to better understand rare diseases. (Sb)

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Picture: Gerd Altmann