Rare diseases represent an enormous challenge, not only for patients and their families but also for doctors and scientists, the healthcare system and society as a whole. A disease is classed as rare if it affects fewer than 1 in 2,000 people. However, there are nearly 8,000 different rare diseases, so that approximately 400,000 people are affected in Austria alone, which, from a statistical point of view, means 1 in every 20 people. To mark World Rare Disease Day (29 February), a panel debate will be dedicated to this topic on 27 February 2020. This will also include the launch of the book entitled "Seltene Erkrankungen – Aspekte aus Ethik und Praxis" [Rare Diseases – Aspects from Ethics and Clinical Practice], written by Christiane Druml, Director of MedUni Vienna's Josephinum and Deputy Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), together with political scientist Paul Just.
Around 80% of all rare diseases have a genetic cause, however the underlying causes of more than half are hardly understood, if at all. For this reason, there is often a lack of therapeutic agents to treat them or these drugs are very expensive. World Rare Disease Day on 29 February draws attention to the predicament of those affected.
Research is being conducted at MedUni Vienna together with the CeMM (Research Center for Molecular Medicine of the Austrian Academy of Sciences) and St. Anna Children's Cancer Research, within the framework of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases" (LBI-RUD).
"Our research work not only helps affected patients, since it forms the basis for targeted treatments, but also provides unique and revolutionary insights into human biology – which broadens our basic understanding of human diseases," explains Institute Director Kaan Boztug.
The research is focused on rare diseases of the immune system, haematopoiesis, dermatology and of the nervous system, which together make up more than 50% of all rare diseases. Other priorities include rare diseases in the areas of gastroenterology, hepatology and research into cancer cells.
How expensive can a medication be?
The content of a recently published book ("Seltene Erkrankungen – Aspekte aus Ethik und Praxis") addresses this question. "Rare diseases in particular throw up urgent questions for society," says Christiane Druml, UNESCO Chair for Bioethics at the Medical University of Vienna and co-author, "which, in addition to more general ethical principles, also touch upon the principle of fairness . For the first time, our book, which was written for the German-speaking countries, raises and discusses these questions – such as the desire to have a healthy child, for example, or how expensive a medication can be."
Event: "Rare Diseases 2020" with book launch on 27 February 2020
To mark Rare Disease Day on 29 February 2020, the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) invites people to an event at the CeMM (Lazarettgasse 14, General Hospital Building 25.3, Large Seminar Room, Level 8) at 16:00 hrs on Thursday, 27 February 2020. In addition to a panel debate, there will be a presentation of the book "Seltene Erkrankungen – Aspekte aus Ethik und Praxis" by Paul Just & Christiane Druml (published by Facultas University Publishers).