ABOUT US

Research into rare diseases is more reliant on good, cross-border, interdisciplinary collaborations than research in any other field of medicine. There are 7000 known rare diseases, but although every one of them is rare (with a rate of occurance of 5 : 10 000), as a whole they are a great burden both for those affected by them and for society. Roughly 33 million poeple suffer from rare diseases in the EU alone. It can still take many years for these patients to receive a correct diagnosis, which means that they have to undertake odysseys from one doctor to another. In medical faculties too little attention is still paid to the special needs and peculiarities of patients with rare diseases and all too often patients are divided into stereotypical groups. This does not allow unusual medical phenomenons to be taken into account. It is of the utmost importance that doctors and medical students gain an increased awareness of rare diseases. Even if a patient can be correctly diagnosed, often this does not signal an end to their problems as there is still no chance of a cure for most rare diseases.

Good international collaborations are fundamental for gaining an overview of patients suffering from rare diseases and their unique symptoms. This enables durable statements to be made about diagnostic techniques and treatments and new pioneering research work to be implemented. As rare diseases are usually caused by small genetic hereditary flaws, research of these flaws provides more opportunities for helping people suffering from rare diseases. In the light of modern, technological „omics“-based platforms, pathogenetic principles can be more quickly and clearly recognised than for more complex diseases. Research into rare diseases therefore offers unforeseen insights into the development and function of cells, organs and how the human body works as a whole. It is of fundamental importance for the upcoming generations of doctors and researchers that new ways of dealing with patients are defined so as to be able to make treatments possible that are specifically tailored to every individual patient’s needs.

Within the framework of the thematic network „Research for Rare diseases and Personalised Medicine“ based at the Dr. von Hauner Children's Hospital (University hospital Ludwig-Maximilians-University Munich) we want to introduce new approaches to, and set new standards for, the education and training of physicians and researchers through an international dialogue with our partner institutions in Bangkok, Kayseri, Tel Aviv, Isfahan, Boston, Toronto and Medellín. The strategic objective of this project is, on the one hand, to shed light on the fundamental genetic facts and the pathophysiology of rare diseases of the immune system and to develop new treatment options, and, on the other hand, we would like to induce „new ways of thinking“ in medicine with the help of our expert partners. By promoting mobility and junior researchers we want to help patients with rare diseases to step out of their shadowy existence as „the orphans of medicine“ and become a vanguard for a new era of individualised medicine.