PURA syndrome is a rare developmental disorder of the brain for which there is currently no cure. The patient association PURA Syndrome Germany was founded last year. Since then, the affected families have been collecting donations with great dedication – and have decided to donate the majority of this money to research into the syndrome at Ulm University.

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.

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.

Depending on whether the cell nucleus of an epithelial cell is located on the outer or inner side of the tissue, the genome is more or less acetylated - genes can therefore be translated easier or harder. Scientists from the German Cancer Research Center (DKFZ) have demonstrated this for the first time in the development of the Drosophila wing.

Colorectal cancer differs from patient to patient. That is why scientists are looking for characteristic tumors markers that allow to make predictions about the likely response to certain therapies and the individual prognosis. The aim is to identify colorectal cancer subtypes so that these can then be treated in a customized manner.

Review - 09/02/2023

5th Gene Technology Report – a critical observation of a cutting-edge technology

The societal importance of genetic technologies was demonstrated during the coronavirus pandemic, when it was possible to rapidly develop suitable vaccines thanks to genetic engineering methods. As a result, the Fifth Gene Technology Report published in autumn 2021 reads like a validation of many years of work, as well as making it clear that the will to continue the detailed long-term monitoring is very much present.

Patients have 30 percent fewer serious side effects when medication doses are tailored to their genetic profile. This is what an international research consortium has found out, including the Dr. Margarete Fischer-Bosch Institute of Clinical Pharmacology at the Bosch Health Campus. With an individual DNA medication pass, as used in the study, treatments can be made more effective and safer in the future.

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.

Women have an increased risk of breast cancer if they have a family history of this disease. However, the risk may also be higher if first-degree family members have another type of cancer, according to a study by a team of scientists and physicians from the National Center for Tumor Diseases (NCT) Heidelberg, the German Cancer Research Center (DKFZ) and Heidelberg University Hospital (UKHD), as well as international colleagues.

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.

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…

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…

Dossier - 28/08/2018

With molecular diagnostics to biomarker-based personalised therapy

Diagnosing suitable biomarkers is a prerequisite for tailoring personalised therapies to patient heterogeneity. Genetic tests and genome sequencing play a key role in these diagnoses. Up until now, personalised therapy has achieved the greatest success in the field of oncology. However, personalised treatments are also gaining in importance for treating other diseases.

Dossier - 10/03/2014

Cancer therapy and cancer diagnostics

Thanks to improved diagnostics and therapy, today’s cancer patients can live considerably longer than patients several years ago. Nevertheless, some cancers, especially the strongly metastatic ones, are difficult to treat. Therapies targeting immune cells or cancer stem cells could potentially improve the current situation.

Dossier - 05/08/2013

Progress expands bioethical boundaries

Bioethics is a rich and continually evolving field. In the broadest sense, bioethics relates to the way human individuals treat any form of life. The issue of whether human beings have the right to do whatever they want goes way back. Rapid progress in genetic engineering and cell biology means that it is necessary to look at certain issues in a new way and recognise that not everything that is technically feasible should actually be carried out.

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?

Dossier - 18/06/2012

Biobanks treasure chests for biomedical research

The Research Committee at the German Bundestag, the Office of Technology Assessment at the German Bundestag and the German Ethics Council are all interested in this biomedical research tool, which is both necessary and meaningful. However, opinions with regard to the ethical, legal and technical approach to biobanks differ. Since March 2012 it has become absolutely clear that Germany will not pass a biobanking law during the current mandate.