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Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases

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Barbara Weitgruber, Claudia Lingner and Josef Pröll with the Directors of the two new Ludwig Boltzmann Institutes: Markus Mitterhauser and Kaan Botzug

We congratulate Kaan Boztug and his team whose proposal for the establishment of a Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases has been selected for funding out of 26 applications!

Kaan Boztug is Principal Investigator at CeMM and Associate Professor at the Medical University of Vienna. He is a specialist in Pediatrics and Adolescent Medicine, focusing his research on rare diseases in the field of immunology and hematology. In this context, he has published numerous widely acknowledged scientific publications revealing new monogenetic defects of hematopoiesis and of the immune system and their pathophysiology. Kaan has obtained an ERC Starting Grant, as well as a START Prize of the FWF, and has obtained numerous awards for his work, including a Merit Award of the American Society of Hematology, the Kind-Philipp-Prize for research on pediatric leukemias and theEva Luise and Horst Köhler Award for Research on Rare Diseases.

The Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI RUD) under the leadership of Kaan will establish coordinated research efforts on the genetic and functional basis of rare diseases. LBI-RUD will pursue an ambitious translational research program to phenotypically characterize rare diseases patients in Austria and beyond and efficiently identify known and novel, causative gene defects. Furthermore, the researchers will conduct molecular work-up to unravel disease mechanisms and translate these discoveries into therapeutic options for individual patients and for groups of rare diseases sharing similar biology. Special focus of the institute will be on the investigations of rare diseases of the immune system and hematopoiesis and rare neurological diseases. Furthermore, LBI RUD will pursue research on ethical and societal aspects of rare diseases and connect with a broad range of stakeholders to advance rare diseases research. CeMM, the Research Center for Molecular Medicine of the Austrian Academy of Sciences, the Medical University of Vienna, and the Children´s Cancer Research Institute of St. Anna Children’s Hospital (CCRI) are official partners of LBI-RUD.

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