Toxicologists from the University of Konstanz have found that the protein p53 continuously protects our cells from tumorigenesis by coordinating important metabolic processes that stabilize their genomes.

The working group around Dr. Philipp Rathert at the Institute for Biochemistry and Technical Biochemistry investigates the regulation of epigenetic networks of certain cancers and ways of treating them. The working group published its new findings in April.

Heidelberg scientists succeed in boosting the efficiency of CRISPR/Cas9 and related methods and modifying initially inaccessible DNA sequences.

Applying and developing new technologies for DNA synthesis to pave the way for producing entire artificial genomes – that is the goal of a new interdisciplinary center, 'Center for Synthetic Genomics', that is being established at Heidelberg University, Karlsruhe Institute of Technology (KIT), and Johannes Gutenberg University Mainz (JGU).

Genetic alterations that promote the development and spread of tumors are difficult to identify. This is especially true for mutations in the non-protein-coding regions of the genome, which include all important regulatory sequences. Scientists at the German Cancer Research Center have now published an algorithm that detects cancer drivers in both the protein-coding and non-coding regions of the genome.

Personalized medicine with individually tailored therapies is becoming more a reality in cancer. This requires a look into the genetic material of tumors, a molecular diagnostic tumor profile. A research group from the German Network for Personalized Medicine (DNPM) has recorded the quality standards according to which genome analyses are carried out in Germany. The data is a prerequisite for integrating gene sequencing into routine care.

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.

They are underestimated genetic control elements: it is known that changes in the genome can trigger diabetes. But now researchers at the University Hospital Ulm and the INSERM Cochin Institute in Paris have shown that a previously under-researched region of the genome also plays a crucial role in the development of this disease.

Researchers from the Max Planck Institute for Biology Tübingen developed the groundbreaking tool SynTracker. SynTracker expands traditional microbial analysis by considering genomic structural variation to complement existing SNP-based methods. This innovation reveals more precision and depths of microbial strain diversity and evolution.

Tuberculosis is one of the leading causes of death worldwide, with an estimated 1.4 million deaths and ten million people infected annually. Resistant and multidrug-resistant (MDR) variants of the tuberculosis pathogen Mycobacterium tuberculosis pose a major threat to tuberculosis control and global health.

Article - 10/01/2019

Stocktaking and recommendations for action: the BBAW’s fourth gene technology report

In the new gene technology report, the interdisciplinary working group of the Berlin-Brandenburg Academy of Sciences (BBAW) takes stock of gene technology developments in Germany during the past few decades, and discusses the societal, legal and ethical challenges associated with these technologies in the future. The report is highly topical due to the controversy surrounding the ruling of the European Court of Justice on CRISPR/Cas9 genome…

Certain developmental signals play a significant role in maintaining our genetic blueprints. They prevent alterations in the genome, known as mosaicism. The underlying biological mechanism helps the DNA to produce an identical copy of itself during cell division using the original genetic blueprint. However, it can also contribute to genomic mosaicism during nerve cell development.

The European Research Council is funding a large-scale proof-of-concept study on a new genome sequencing method called “Haplotagging”. Haplotagging is a new method for sequencing our genome with superior quality and faster speed, developed by group leader Frank Chan and his team at the Friedrich Miescher Laboratory at the Max Planck Campus, Tübingen, Germany.

Dossier - 14/06/2016

CRISPR/Cas – genome editing is becoming increasingly popular

The number of publications and patents that involve the CRISPR/Cas system has been increasing exponentially since the technique was first described a few years ago. The increase in funding for projects involving CRISPR/Cas also demonstrates how powerful this new method is. The targeted modification of genomes (also called gene or genome editing) using CRISPR/Cas is extraordinarily accurate and also has the potential to cure hereditary diseases.

Dossier - 26/11/2012

Genetic diagnostics technology reaches the limits of what is medically reasonable

Rapid progress in sequencing technologies is poised to set the imagination of biomedical researchers on fire. Experts now believe that progress is about to make possible what seemed to be utopian a few years ago – it seems likely that it will soon be possible to sequence the human genome in only a few minutes and store and automatically analyse it using tiny automates. However, is everything that is technically feasible also reasonable?

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…

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However in the case of genetic variants the influence on the presentation of certain pathological traits has been difficult to determine. Researchers have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants.

Dossier - 05/11/2012

Cancer basic research successes and trends

Science is approaching cancer treatment by using new systems biology approaches and setting up large-scale multidisciplinary projects such as the International Cancer Genome Consortium. Progress in genome, epigenome and gene expression analyses of cancer cells, new insights into the regulation and interaction of cells gained in cooperation with stem cell research and virus research contributes to gaining a causal understanding of cancer.

Contrary to common belief, not all viruses are harmful to their hosts. Sometimes viruses can even protect their hosts from infection by other viruses. Scientists at the Max-Planck-Institute for Medical Research in Heidelberg and their collaborators have now demonstrated that this is the case for so-called endogenous virophages: small DNA viruses that are mostly found inserted into the genomes of single-cell eukaryotes.

Article - 29/01/2019

Targeted RNA editing with the body’s own enzyme activity

Completely new possibilities for research and gene therapy became available following the development of the CRISPR/Cas method for targeted modification of the genome. However, treatment with molecular scissors is not without risk as potential errors are stored in the genome forever. Scientists from Tübingen have developed an alternative method in which the intervention takes place at the RNA level using the body's own enzymes and is thus…

Researchers have developed a new method that enables a more precise analysis of individual tumor cells circulating in the blood. This allows not only the previously possible genomic investigation of such tumor cells, but also the focused analysis of single-cell signaling pathways at the functional protein level. The combined analysis of the mutated genome and signaling proteins opens up new avenues for more targeted treatment methods.

An international research team has deciphered a mechanism of evolutionary arms race in human cells. The findings provide insights into how mobile elements in DNA hijack cellular functions – and how cells can defend themselves against this in order to prevent conditions such as tumour formation or chronic inflammation.