Die Preisträgerinnen Dr. Nina Bögershausen und Dr. I-Chun Tsai (auf der Leinwand)

 

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Dr. Holger Müller Prize 2015 awarded to young scientists for ground-breaking exploration of rare Kabuki syndrome

For recent achievements in the study of the rare Kabuki syndrome, the young scientists Dr. Nina Bögershausen from the Institute of Human Genetics at the University Medical Center Göttingen and Dr. I-Chun Tsai from Duke University, Durham, USA, receive the Dr. Holger Müller Prize 2015. The solemn ceremony took place in Esslingen on March 16 in the old town hall under the patronage of the Vice President of the Baden Württemberg Landtag, Wolfgang Drexler.

An international research team has succeeded in identifying new causes for the emergence of the so-called Kabuki syndrome. The Kabuki syndrome is a very rare disease. It is named after a traditional Japanese form of theater, because the facial features of patients are reminiscent of the masks used in Kabuki performances. Alongside with the typical facial features, affected people suffer from diverse abnormalities in various organs, associated with variable immune system disorders. The team led by Professor Bernd Wollnik from the Institute of Human Genetics at the University Medical Center Göttingen has discovered not only two new gene defects responsible for Kabuki syndrome, but also shed light on the disease mechanisms of this extremely rare hereditary disease. The research was conducted with a view to the potential treatment of affected patients; the scientists could show that the consequences of genetic defects are medically influenced and hope to have thus set new standards for the development of pharmacological treatment options for patients with the Kabuki syndrome. The first authors Dr. Nina Bögershausen and Dr. I-Chun Tsai won the Dr. Holger Müller Prize 2015 for the publication of these results in the renowned "Journal of Clinical Investigation".

On the one hand, this research success renders a better clinical and genetic diagnosis for children with Kabuki syndrome possible: in the future, affected families can be spared an odyssey from doctor to doctor in search for causes and clinical interdisciplinary care may be organized better. On the other hand, the new findings may point the way for the development of innovative therapeutic strategies for people with Kabuki syndrome and other rare disorders: "Research into the cellular changes in rare diseases always entails the chance to understand general mechanisms which are of relevance for a larger number of people if not even all of us" said Dr. Nina Bögershausen. "In the case of the Kabuki syndrome, it is important to know that the known genes KMT2D and KDM6A also play an important role in the development of various tumors like glioblastoma. Perhaps our findings could therefore serve as food for thought for cancer research. As a doctor and scientist, I am fascinated by the question: Can new genetic mutations help us to understand why a certain disease is manifested in a certain way? "

For the fifth time the Dr. Holger Müller Prize is awarded for an outstanding publication in the field of rare diseases. In cooperation with the Dr. Holger Müller Foundation, the Care-for-Rare Foundation tenders the prize annually since 2011. The awardees receive 5,000 € for an outstanding scientific contribution in the field of rare diseases during the previous year. Thus, young scientists are encouraged to devote more attention to the urgent need for research into rare diseases. This year’s young winner: "We are very happy, for years of commitment to research into rare diseases have been crowned by the Dr. Holger Müller Prize. This also shows a growing awareness among the general public."

 

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