Rare diseases are paradigmatic for the upcoming era of personalized and participatory medicine, and LBI-RUD will broadly embrace their pioneering role for the medicine of the future.

Research at LBI-RUD focuses on the identification and characterization of inborn errors of the immune and nervous system, the development and improvement of bioinformatics tools for Next Generation Sequencing and safe data exchange, and the ethical and societal implications of rare diseases and rare diseases research. Together with clinical partners, LBI-RUD will exploit the results from basic genetic and molecular studies for the development of tailored diagnostic and therapeutic strategies, closing the circle from the clinic to the clinic.

Each research topic is led by one of our key researchers:

In addition, three Adjunct PIs add valuable expertise to our scientific program: