Current Size: 100%

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. 

From gene defect via the molecular mechanism through to medication - this simplified sentence sums up Kaan Boztug's research very well. He and his team are trying to find therapies for diseases where conventional approaches have failed and which are so rare that they are not even named. A rare disease affects, per definiton, less than 1 of 2000 people. But in total it is a lot: More than 8000 rare diseases are known up to date, meaning every 17. person is affected by a rare disease. Kaan Boztug's focus lies on rare, inherent hematopoiesis disorders as cause of immunodeficiencies and within the context of childhood cancer. Kaan Boztug's approach to find effective treatments for rare diseases is a prime example of precision medicine: The individual genetic propeties and a deep knowledge of the molecular mechanisms of a disease are the foundation for a tailored therapy, where ideally already approved drugs are used. For his great success, Kaan Boztug, as pediatrician and member of the ÖGKJ, whose research publications has been cited the most within the past three years, was now awarded the Clemens von Pirquet-prize.

In addition, Kaan Boztug received the Austrian Science prize for Pediatrics. The honored publication deals with a gene mutation, that leads to severe enteropathy already during childhood. This mutation causes a stop signal within the blueprint of protein CD55, leading to a premature termination of the protein synthesis. The resulting, incomplete protein is useless for the body and is degraded. The affected patients suffer for example from chronic diarrhea, bowel inflammation, and thrombosis. Kaan Boztug and his group could show the loss of protein CD55 as a result of this gene mutation. By decoding the underlying molecular mechanism the researchers were able to find a cure for this disease. The rewarded research work has been published in the renowned journal „New England Journal of Medicine“ last year.




The rewarded publication:

“CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis”

Ahmet OzenX, William A. ComrieX, Rico Chandra ArdyX, Cecilia Domínguez Conde, Buket Dalgic, Ömer Faruk Beser, Aaron R. Morawski, Elif Karakoc-Aydiner, Engin Tutar, Safa Baris, Figen Özcay, Nina Kathrin Serwas, Yu Zhang, Helen F. Matthews, Stefania Pittaluga, Les R. Folio, Aysel Unlusoy Aksu, Joshua J. McElwee, Ana Krolo, Ayca Kiykim,  Zeren Baris, Meltem Gulsan, Ismail Ogulur, Scott B. Snapper, Roderick HJ Houwen, Helen L. Leavis, Deniz Ertem, Renate Kain, Sinan Sari, Tülay Erkan, Helen C. Su, Kaan Boztug* und Michael J. Lenardo* ( X shared first authors; * shared corresponding authors); published in “New England Journal of Medicine” am 28. Juni 2017. DOI: 10.1056/NEJMoa1615887