(Vienna, 02 October 2018) Kaan Boztug, Professor of Pediatric and Adolescent Medicine at the Medical University of Vienna and St. Anna Children’s Hospital, Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) and research group leader at CeMM, is awarded this year’s Clemens von Pirquet Prize for his research into rare diseases. In addition, he was awarded the Austrian Science Prize for Pediatric and Adolescent Medicine for his research work into serious bowel conditions caused by a newly discovered rare genetic defect. Both prizes are awarded annually by the Austrian Society for Pediatric and Adolescent Medicine (ÖGKJ).
Kaan Boztug’s research could be summarised in one (greatly simplified) sentence as follows: from genetic defect to molecular mechanism through to active agent. His team is trying to find treatments for diseases where all conventional approaches have failed and which are mostly so rare that they do not even have a name yet. A rare disease is defined as one that affects fewer than 1 in 2,000 people. However, that still adds up to a lot of people: there are currently around 8,000 known rare diseases, so that statistically every 17th person is suffering from a rare disease. However, some rare diseases are only found in a few cases worldwide, which makes diagnosis and treatment so much more difficult. Here the focus is on rare congenital blood formation disorders as the cause of immunodeficiencies and in the context of childhood cancers. The approach taken by Boztug’s team in the search for effective treatments for rare diseases is also a prime example of personalised medicine: individual genetics and a deep understanding of molecular disease mechanisms provide a basis for tailor-made treatment, ideally using drugs that are already tried and tested. And with great success, for which Kaan Boztug has now been awarded the Clemens von Pirquet Prize, since he is a paediatrician and member of the ÖGKJ and has had the most citations of his papers over the last three years.
Science Prize for Pediatrics and Adolescent Medicine for study on intestinal disorder
Kaan Boztug was also awarded the Austrian Science Prize for Pediatrics and Adolescent Medicine. This year’s prize-winning publication deals with rare genetic mutations that lead to serious intestinal disorders in childhood. These mutations generate a stop signal in the genetic building instructions for protein CD55, so that production in the cell is prematurely aborted. The resulting incomplete protein is of no use to the body and so is broken down, causing affected patients to suffer from chronic diarrhoea, intestinal inflammation and thrombosis. Kaan Boztug and his group showed that the loss of CD55 resulted from this gene mutation. By decoding the molecular mechanism of the disease, researchers were able to find a drug to treat sufferers. The prize-winning research paper appeared last year in the prestigious “New England Journal of Medicine”.
About the Clemens von Pirquet Prize
In honour of the Austrian paediatrician Clemens von Pirquet, the Austrian Society of Pediatric and Adolescent Medicine (ÖGKJ) awards the Clemens von Pirquet Prize every year to the ÖGKJ member who has had the most citations of his/her scientific publications as a lead or senior author over the previous three years.
About the Austrian Science Prize for Pediatric and Adolescent Medicine
Every year the ÖGKJ awards the Science Prize to three scientists in the categories “clinical, experimental and oncologic papers”. The prize-winners are chosen on the basis of the most successful publication and the impact factor of the associated scientific journal.
About Kaan Boztug
Born in Eregli/Turkey, Kaan Boztug studied medicine in Düsseldorf, Freiburg and London. In 2011 he came to Vienna to work at the Austrian Academy of Sciences’ CeMM Research Center for Molecular Medicine, where he still leads a research group. He simultaneously works as a doctor of paediatric and adolescent medicine at MedUni Vienna/Vienna General Hospital and at St. Anna Children’s Hospital. He has been head of the Vienna Center for Rare and Undiagnosed Diseases (CeRUD) since 2014 and Director of the Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases (LBI-RUD) since 2016.
The prize-winning 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* and Michael J. Lenardo* ( X shared first authorship; * joint last and corresponding authors); published in “New England Journal of Medicine” on 28 June 2017.