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".

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".

New research by the University Hospital Bonn (UKB) in cooperation with the University of Bonn has shown for the first time that certain early changes in patients with age-related macular degeneration (AMD) can lead to a measurable local loss of vision. This discovery could help to improve the treatment and monitoring of this eye disease in older patients, which otherwise slowly leads to central blindness, and to test new therapies.

Monocytes, a special type of white blood cell, secrete cytokines as inflammatory messengers that are crucial for an appropriate immune response. Researchers at the University Hospital Bonn (UKB) and the University of Bonn have now discovered that platelets, also known as thrombocytes, communicate with monocytes and increase their inflammatory capacity. By understanding the platelet-monocyte interaction, they hope to improve the treatment of immune disorders and associated diseases. The results of the study have now been published in the renowned journal "EMBO Molecular Medicine" and will be featured on the cover of August issue.

Researchers at the University of Bonn have isolated a DNA molecule that is suitable for combating allergic contact dermatitis in mice. What is known as an aptamer binds to certain immune system messenger substances, rendering them ineffective. This even works if the active ingredient is applied to the skin in the form of an ointment. The working groups involved hope that aptamer creams such as this could also be suitable for treating other skin conditions. The results have now been published in the journal Molecular Therapies - Nucleic Acids.

In a study with 991 adults, scientists at DZNE show that the most common forms of frontotemporal dementia (FTD) as well as the neurological diseases amyotrophic lateral sclerosis (ALS) and progressive supranuclear palsy (PSP) can be recognised by blood testing. Their procedure is not yet ready for routine medical use, but in the long term it could facilitate disease diagnosis and advance the development of new therapies already now. The findings published in the journal Nature Medicine are based on the measurement of certain proteinsin the blood,  which serve as biomarkers. The study also involved the University Hospital Bonn (UKB) and other research institutions in Germany and Spain.

Loneliness is not a disease. And yet it is a significant health problem. Depression, heart disease or dementia - people who are permanently lonely have a higher risk of becoming ill. The team led by Dr. Jana Lieberz from the University Hospital Bonn (UKB), who also conducts research at the University of Bonn, and Prof. Dr. Dirk Scheele (Ruhr University Bochum) have investigated how loneliness can be specifically combated. In a controlled study, in which the universities of Oldenburg, Bochum, Freiburg and Haifa (Israel) were also involved, 78 women and men who felt lonely were given the so-called "cuddle hormone" oxytocin as a nasal spray. The effects that the researchers observed could help to alleviate loneliness and its potentially serious consequences in the future.

Researchers from the University of Southern Denmark, the Novo Nordisk Center for Adipocyte Signaling (SDU), the University of Bonn and the University Hospital Bonn (UKB) have found a protein that is responsible for turning off brown fat activity. This new discovery could lead to a promising strategy for safely activating brown fat and tackling obesity and related health problems. The results of the study have now been published in the journal „Nature Metabolism“.