Scientists from Heidelberg University Hospital the German Cancer Research Center and the company Febit Biomed GmbH have now developed a method that facilitates the analysis and detection of disease-causing genetic modifications for the first time ever this method enables the genetic characterisation of cardiomyopathy patients. For patients and their relatives this means that the disease can now be reliably diagnosed and specific treatment and care be put in place at an early stage. In future it will also be possible to offer the new method to a larger number of patients than was previously the case.
Lysosomal storage diseases LSD are a group of around 50 rare inherited metabolic disorders. Only 12 LSDs have been described biochemically and microbiologically. Prof. Dr. Michael Przybylski from the Steinbeis Transfer Centre for Biopolymer Analysis and Proteomics at the University of Constance now hopes to change this situation. In a project carried out in cooperation with the biotech company Genzyme CEE Konstanz and the University of Timisoara Przybylski has developed two highly sensitive molecular methods involving mass spectrometry and fluorimetry and validated them for use in clinical diagnostics.
Dr. Kerstin Stemmer from the University of Konstanz has found a way to identify the carcinogenic potential of substances in just a few days using state-of-the-art technology and new investigation methods. This is the first time that researchers have been able to reduce the time and the number of animals used in carcinogenesis studies.
GATC Biotech AG is already on the lookout for next generation sequencing technologies in the form of real-time single-molecule sequencing. In an interview with BIOPRO Thomas Pohl CTO of GATC Biotech AG explains why the company is continuously expanding its existing equipment with the latest global technologies.
Researchers led by the Ulm paediatrician Holger Cario have identified a rare, congenital genetic defect that leads to the dysregulation of the folic acid metabolism, resulting in aenemia, epilepsy and learning difficulties in children. All aspects of the disease can be treated quite successfully with the exception of the cramps associated with the defect.
Hope for breast cancer patients under the leadership of the Vorarlberg Institute for Vascular Investigation and Treatment VIVIT a cross border cooperation is to start between hospitals and bioanalytical laboratories of the Rhine Valley and Lake Constance region. It is aimed at exploring the influence genetic material DNA has on the progression of breast cancer and the response to breast cancer treatment. A collaboration which became possible thanks to the BioLAGO association.
Around 3000 people suffer from achromatopsia in Germany. Achromatopsia is an inherited visual disorder characterised by the absence of full colour vision. The disease is caused by a genetic defect that makes the retina's cone photoreceptors, needed for daylight and colour vision, non-functional. There is currently no cure for achromatopsia. Scientists from Tübingen University Hospital and their colleagues from Munich and New York have now developed a gene therapy approach to treat the eye disease.
The ability to detect a broad range of conditions and modifications in human, animal, plant and pathogen genes is highly important in the field of medicine for diagnosing diseases and starting therapy as quickly as possible. Chemists at the University of Konstanz have now developed a genetic test that does not need to be carried out in the laboratory and can be evaluated with the naked eye, similar to a pregnancy test. The test would therefore be suitable for rapid and simple on-site tests.
The Department of Cardiology at Heidelberg University Hospital and Siemens Corporate Technology have been working together since 2011 to develop new software that improves the diagnosis of heart diseases. The new software analyses and manages data related to the genetic causes of cardiomyopathy and presents the data to physicians in a clear manner. Specific microRNAs in the blood of patients have the potential of being used as new biomarkers, thus making diagnosis of a heart attack more rapid and reliable.
Hain Lifescience GmbH is a biotechnology company that develops, manufactures and distributes molecular genetic test systems and instruments. The company was established by brothers David and Tobias Hain in 1988 and employs over 100 people at its headquarters in the city of Nehren in the district of Tübingen. Hain Lifescience also has four subsidiaries abroad. The company focusses on the development of test systems for the early and rapid identification of bacteria such as methicillin-resistant Staphylococcus aureus (MRSA), which is the major cause of hospital-acquired infections. The company’s MRSA test provides a reliable result in less than three hours, enabling appropriate therapeutic measures to be taken rapidly.
Epigenetic DNA modifications have been shown to play a role in carcinogenesis and are therefore a promising target for the early detection of cancer. Dr. Daniel Summerer and his research group at the University of Konstanz have developed a method that enables the direct and site-specific identification of epigenetic changes. The method represents a new approach in the field of epigenetic analysis as well as a major step towards simpler cancer diagnosis.
The exome is the part of the genome that is formed by exons i.e. the DNA regions that code for proteins and other functional products. Though comprising only about 1 of the total genome the majority of disease-causing mutations occur in the exome. Selectively sequencing the coding regions of the genome is quicker than whole-genome sequencing. Therefore exome sequencing plays an important role in the diagnosis of genetic diseases and cancer. Konstanz-based GATC Biotech AG has designed InViewTM 1-Week Exome Diagnostic an exome sequencing service with the worlds fastest turn-around time.
The prostate genome project, which is part of the International Cancer Genome Consortium, is focused on the genetic and epigenetic causes of the development and progression of this highly variable cancer and finding markers that enable the reliable diagnosis of the disease. The German research groups involved in the project are coordinated by the German Cancer Research Center and concentrate on prostate cancer patients under 50 years of age, as these cases might be key to understanding the development of the disease.
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?
Gene therapy approaches are increasingly being used for treating life-threatening diseases in humans. GeneWerk GmbH, a spin-off of the DKFZ and the NCT in Heidelberg, offers customised, high-resolution molecular and bioinformatic analyses that ensure the efficacy and safety of gene therapy and immunotherapy studies.
A team of researchers from Freiburg has used direct programming to successfully produce kidney-like cells very similar to natural renal tubular cells in terms of appearance and function. These cells are thus a promising alternative to kidney cells isolated from animals and cells differentiated from embryonic stem cells. The reprogrammed kidney cells can be used, for example, for pharmacological and toxicological tests and investigating the disease mechanisms of genetic renal diseases.
Watson and Crick deciphered the structure of DNA around 60 years ago and thus provided the key to understanding how genetic information is passed on. Since this discovery, which laid the foundation for molecular biology, new insights and developments have significantly changed many research areas and have also found their way into our everyday lives. DNA sequencing, genetic fingerprinting or personalised medicine – Watson and Crick’s heritage is omnipresent.
The quantitative detection of DNA single-strand breaks is of great importance for many areas of biomedical research and diagnostics. The Fluorescence-detected Alkaline DNA Unwinding FADU assay assists in the investigation of mechanisms of DNA damage and repair following DNA strand breaks upon exposure to chemicals. Prof. Alexander Bürkle and his team at the University of Konstanz have automated and optimised the original FADU assay which was published in 1981 to make it more efficient and quicker than before.
DNA sequencing has become indispensable in modern science. Innovative advances that will bring about changes in the life sciences and medicine are due to rapid developments in genome analysis technologies. In the interview below, Peter Pohl, CEO and co-founder of GATC Biotech AG, explains why DNA sequencing will become even more important in future.
In adults, cells such as nerve or cardiac muscle cells have lost the ability to regenerate. This is why myocardial infarction is so dangerous – damaged cardiac muscle cells do not grow back and scar tissue forms in their place. Prof. Dr. Gilbert Weidinger and an international team of researchers have deciphered a mechanism responsible for the regeneration of the zebrafish heart.
The recent German Cardiac Society meeting in Mannheim in April 2012 focused on the latest findings related to the prognosis, diagnosis and therapy of heart diseases. While great progress has been made in the therapy of disease symptoms, it will still take a long time before gene and stem cell therapies that target the causes of disease find their way into clinical application. The conference also presented the new German Centre for Cardiovascular Research, which will be located at seven centres in Germany. The centre will specifically focus on the translation of research on the most important cardiac diseases (e.g. cardiac insufficiency) into clinical application and the pooling of expertise for the development of new therapies and diagnostics for the treatment of cardiovascular diseases.
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. The early detection and classification of tumours is crucial for the successful treatment of the disease, and molecular diagnosis involving biomarkers and genome analyses are important for personalising cancer therapy.
Researchers from Heidelberg have shown that the organismal balance between heat production and energy storage is regulated by a gene called THADA. In animal experiments, knocking out the THADA gene leads to excessive food intake, obesity and sensitivity to cold. As humans spread throughout the world and settled in different climate zones, THADA was exposed to high selection pressure due to evolutionary adaptation. This explains why human susceptibility to obesity is more prevalent in warm climates.
Therapeutic success can only be achieved when diagnoses are as precise as possible. Nowadays, genetic analyses can make precise diagnoses for many diseases. And thanks to high-throughput technology, results are available to patients very quickly. Dr. Dr. Saskia Biskup recognised the importance of precision medicine many years ago and went on to found CeGaT GmbH, a company that combines human genetics with high-throughput sequencing. Three subsidiaries have since been created and Biskup, a medical doctor by training, would under no circumstances give up her autonomy for a purely academic career.
IHO GmbH from Mannheim offers a professional solution for the international exchange of information and services concerning the molecular diagnosis of leukaemia. This drives forward the harmonisation of these methods and brings therapy monitoring to a new global level.