The majority of rare diseases have a genetic cause. The underlying genetic alteration can be found more and more easily, for example by means of exome sequencing (ES), leading to a molecular genetic diagnosis. ES is an examination of all sections of our genetic material (DNA) that code for proteins. As part of a Germany-wide multicenter study, ES data was collected from 1,577 patients and systematically evaluated. This made it possible to diagnose a total of 499 patients, with 34 patients showing new, previously unknown genetic diseases. The study thus makes a significant contribution to the initial description of new diseases. In addition, software based on the use of artificial intelligence (AI) was used for the first time on a broad scale to support clinical diagnosis. The "GestaltMatcher" AI system can assist in the assessment of facial features with regard to the classification of congenital genetic syndromes. The results of the study, in which 16 universities and university hospitals were involved, including the University of Bonn, have now been published in the renowned journal "Nature Genetics".
What effect does a vegan/vegetarian month have on a canteen? For this experiment, the Studierendenwerk Bonn sought scientific support from researchers at the Universities of Bonn and Kassel. They found that the impact could still be felt up to eight weeks after the campaign month had ended: as a result of the vegan/vegetarian month, the amount of meat consumed in the canteen fell by 7 to 12 percent compared to the level recorded beforehand. In addition, around half of the people surveyed agreed with the idea of one meat-free month a year, while over 80 percent said that canteens should offer more vegetarian options. The findings have been published in a working paper prepared by the ECONtribute Cluster of Excellence at the University of Bonn.
Star-shaped glial cells, so-called astrocytes, are more than just a supporting cell of the brain. They are actively involved in learning processes and interact with the nerve cells. But what exactly is it that astrocytes do? Researchers at the University Hospital Bonn (UKB) and the University of Bonn are using a biophysical model to clarify how astrocytes interact with nerve cells to regulate rapid adaptation to new information. The results of the study have now been published in the renowned journal "Nature Communications Biology".
Two recently published sets of rankings, from CWTS Leiden and QS Europe, highlight the extensive international networks contributing to the University of Bonn’s research.
This week (Friday 19 July) the UK’s polar research vessel the RRS Sir David Attenborough makes its first science expedition to the Arctic. A team will work in south-east Greenland to advance our understanding of the region's rapidly decaying ice sheet and its impacts on ocean and global climate systems. Also on board the ship: Katrin Wagner, PhD student at the Institute of Geosciences at the University of Bonn. During the expedition, Katrin Wagner will talk about her life on board and answer questions from the public.
Jessica Fintzen has won yet another highly prestigious accolade, this time the European Mathematical Society’s EMS Prize. The professor in the University of Bonn’s Mathematical Institute and member of the Hausdorff Center for Mathematics (HCM) Cluster of Excellence is to be handed the award on Monday, July 15, during the ninth European Congress of Mathematics (ECM) in the Spanish city of Seville.