The Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) has been founded to implement a coordinated research program on the genetic and functional basis of rare diseases. Rare diseases are paradigmatic for the upcoming era of personalized and participatory medicine, and LBI-RUD broadly embraces its pioneering role for the future of medicine with the vision to provide an internationally visible contribution to its realization.

LBI-RUD has gained national and international visibility as it has been able to provide proof of concept of how molecular mechanisms may enable the development of tailored diagnostic and stratified therapeutic strategies, closing the circle from the clinic via research back to the clinic.

LBI-RUD complements its expertise in molecular genetics with a strong focus on ethical and societal issues pertinent to rare diseases, including data sharing and protection, single-patient clinical trials, resource allocation in research and healthcare, as well as the involvement of patients and advocacy groups.

The LBI-RUD partners Medical University of Vienna (MedUni Vienna), with the largest university hospital in Europe, the St. Anna Children’s Cancer Research Institute (CCRI), and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, provide an ideal interface to bridge state-of-the-art research and clinical practice. With their support, LBI-RUD has been deeply integrated into the national network to diagnose, characterize, and treat rare genetic defects as an active part within the Vienna Center for Rare and Undiagnosed Diseases (CeRUD).

LBI-RUD and its partner network support researchers investigating, physicians treating, and ultimately patients suffering from rare diseases. The institute functions as a visible unit to perform a set of clinically relevant activities focused on providing targeted therapies to a growing number of patients suffering from rare diseases.