Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors.

So-called silent mutations have no effect on the composition of a protein. They are therefore not considered to promote cancer. However, scientists from the German Consortium for Translational Cancer Research (DKTK), partner site Essen, now describe in a case of kidney cancer an overlooked silent mutation with a major impact on prognosis.

Article - 17/02/2021

Whole blood model enables development of early warning system for sepsis

Sepsis is a life-threatening disease that can be treated all the more successfully the faster therapy is initiated. It is not just the infection itself that is so dangerous, but a dysregulated response of the immune system. Physicians at Ulm University Hospital have now developed an animal-free test system that can be used to research the disease and develop innovative diagnostic tools to quickly assess a patient's sepsis risk and optimise…

An international research team involving the universities of Paraná and Tübingen has developed a rapid test that can reliably identify Covid-19 antibodies in the blood within minutes. As the researchers report in the journal ACS Sensors, the new process is based on a simple measuring principle making it easy to carry out without expensive instruments, and is therefore suitable for use at mobile testing centers or by laboratories.

AI-based evaluation of medical imaging data usually requires a specially developed algorithm for each task. Scientists from the German Cancer Research Center (DKFZ) have now presented a new method for configuring self-learning algorithms for a large number of different imaging datasets – without the need for specialist knowledge or very significant computing power.

Development of the genomDE genome database - 04/12/2020

Whole genome sequencing for diagnosing rare diseases

Grouped together, rare diseases are by no means a rare phenomenon; however, they are rarely correctly diagnosed and rarely properly treated. In most cases, there is no effective medication available. Rare disease centres staffed by experts have been set up in many German cities to speed up the often long and painful search for the right diagnosis and treatment. Whole genome sequencing is a component of general healthcare, used to identify…

The chain reaction which leads to toxic protein deposits in Alzheimer’s disease starts even earlier than assumed. Researchers from Tübingen show how this process could be stopped early on.

Lab-on-a-chip - 11/11/2020

Microfluidic platform for the best possible cancer therapy

Every tumour and every patient is different, and there are individual reactions to drugs as well as the problem of resistance. Patient-specific cancer treatments require innovative and cost-effective approaches. The TheraMe! consortium has developed a novel instrument: a combination of microfluidic experiments and mathematical modelling for use in cancer precision medicine to prevent incorrect therapy options.

To ensure that sepsis patients receive appropriate antibiotics as quickly as possible, Fraunhofer IGB researchers have developed a diagnostic procedure that uses high-throughput sequencing of blood samples and delivers results much faster than conventional culture-based techniques. Thanks to the latest single-molecule sequencing techniques, this process has now been further improved so that pathogens can be identified after just a few hours.

Article - 04/11/2020

Rapid coronavirus test delivers results in 43 minutes

The Hahn-Schickard Institute and Spindiag GmbH in Freiburg im Breisgau have joined forces to develop a rapid test used at the point of care. The test takes just 43 minutes to show whether a patient is infected with the coronavirus SARS-CoV-2. The rapid test is expected to be given market approval in Germany and the EU during the final quarter of 2020.

Juvenile myelomonocytic leukemia (JMML) is a rare blood cancer of early childhood. Previous research activities have shown that JMML patients can be divided into three groups based on certain genetic markers, DNA methylation. Depending on the subgroup, statements can be made about the course of the disease.

Dr. André Martins from the Department of Radiology at the Tübingen University Hospitals is one of this year's recipients of the Alexander von Humboldt Foundation's Sofja Kovalevskaja Award.