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Rare Disease Day 2019

Today is Rare Disease Day 2019, aiming to raise awareness amongst the general public as well as decision-makers for rare diseases and how they affect patients' lives.

A rare disease affects, per definition, less than 1 of 2,000 people. But in total this is a lot: More than 8,000 rare diseases are known up to date, meaning every 17th person is affected by a rare disease - in Austria these are about 400,000 people . These numbers show the impact of rare diseases on the health system and people's lives in general.

Kaan Boztug is awarded this year's Clemens von Pirquet-prize and the Austrian Science prize for pediatrics by the "Österreichische Gesellschaft für Kinder- und Jugendheilkunde (ÖGKJ)"

Kaan Boztug, Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD), Adjunct Principal Investigator at CeMM Center for Molecular Medicine of the Austrian Academy of Sciences and Professor of Pediatrics at the Medical University Vienna and at St. Anna's Children Hospital, receives the prestigious Clemens von Pirquet-prize 2018 for his research on rare diseases. In addition, he is honored with this year's Austrian Science prize for Pediatrics for his publication about severe enteropathy and its underlying novel rare gene defect. 

LBI-RUD hosted a very succesful workshop on Human Phenotype Ontology (HPO)

From September 10-11, 2018 the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, in the person of Assoc. Prof. Kaan Boztug as Director of the LBI-RUD and head of ESID Working Party of Genetics, organized in cooperation with Marielle van Gijn (Head of Molecular Testing Working Group at ERN-RITA, a workshop on Human Phenotype Ontology (HPO) with a focus on immunodeficiencies and autoinflammatory diseases. HPO provides a standardized vocabulary to describe phenotypic (clinical) abnormalities observed in human diseases.

LBG Meeting for Health Sciences 2018

Call for Abstracts ends on September, 10th - Submit your abstract now

The Ludwig Boltzmann Gesellschaft invites interested scientists for this year’s LBG Meeting on Health Sciences from 29.-30. November 2018.
The meeting encourages and supports early career researchers to establish themselves within the scientific field. The conference focuses on the translation of research results from theory into practice. The thematic sessions will include keynote lectures by international experts and oral presentations of the best submitted abstracts.

Nature Immunology study by LBI-RUD researchers on novel rare immunodeficiency

A hitherto unknown gene mutation revealed the role of a key molecule for immune cell development. The international team led by LBI-RUD director Kaan Boztug gained fundamentally new insights into the human immune system by studying this newly discovered mutation. Moreover, their research revealed a potential personalized therapy for this rare disease. The study, published in Nature Immunology, clearly highlights the importance and opportunities of research in the field of rare diseases.