Based on the latest scientific findings, the Diagnostic Panel for Epilepsy, Metabolic and Brain Development Disorders was updated.
The gene set for Familial and Idiopathic Epilepsy (EPI01) has been extended, most importantly be adding the genes NPRL2 and NPRL3. Growing knowledge on nocturnal frontal lobe epilepsies and focal epilepsies that are not correlated with time of day show an increasing genetic overlap, leading to the integration of the relevant genes into this gene set.
Several new gene sets are now available for metabolic diseases. Among them, for instance, a gene set for the most frequent cause of metabolic neonatal epileptic encephalopathy (pyridoxine and folic acid-dependent epilepsy), and a gene set for the relatively frequent Methylmalonic Acidemia (incidence approx. 1: 50,000). The gene sets covering disorders of the amino acid metabolism (organic acidemia) were extended.
CeGaT GmbH has received 500,000 euros in funding under the initiative KMU-Innovativ: Biotechnologie-BioChance of the German Federal Ministry of Education and Research. The goal is to establish methods for the analysis of blood-circulating tumor DNA (cell-free DNA, cfDNA) in the context of cancer diagnostics. This would make the existing molecular genetic mutation analysis at CeGaT available to further patients, who, for medical reasons, cannot undergo a tissue biopsy.
Dying cells often release fragments of their genome, cfDNA, into the blood stream. Recent scientific findings suggest that tumor-specific mutations in the cfDNA can be detected by using modern, highly sensitive, molecular-genetic methods. Consequently, it may be possible to identify these individual mutations by examining an easily obtained blood sample, also known as a liquid biopsy. This makes it possible to derive recommendations for specific treatments, tailored to the patient.
In addition to an initial diagnosis, the analysis of cfDNA also opens up the possibility of close monitoring of cancer. Pioneering investigations show that in many cases this method can detect the progress or the recurrence of a tumor at very early time points. This makes cfDNA-based diagnostics a promising addition to the currently available imaging methods and tumor marker studies.
Gut bacteria and microbiome: important fields for precision medicine in the future
The founder and sole shareholder of the private Asklepios clinics, Dr. Bernard große Broermann, has assumed a 40% shareholding of Center for Metagenomics, CeMeT GmbH. With the Tübiom project (www.tuebiom.de), CeMeT is building one of the world’s largest microbiome reference database. The aim is to better understand the influence of the gut bacteria in diseases such as cancer, Alzheimer’s disease and diabetes, as well as vitamin deficiencies. Just a few weeks ago, during an event organized by the German Newspaper DIE ZEIT, Dr. Broermann officially announced that Asklepios will intensify its engagement in the field of precision medicine.
The causes of many diseases are unknown and medication is currently only prescribed on a statistical basis. With precision medicine on the rise, a different approach is developing including evaluating genetic variants, the environment and other factors such as the bacteria populating the gut.
As part of this new involvement, the capital of CeMeT has been increased by several million Euros. The founding shareholders of CeMeT, the professors Ingo Autenrieth, Daniel Huson and Detlef Weigel from Tübingen, and CeGaT GmbH, remain part of the company and together hold 55.6% of the shares.
In 2016, more than 600 million dollars were invested into microbiome research. This research field is rapidly increasing and more and more research groups and companies have the need for microbiome analysis and interpretation. The importance of microbiome research is demonstrated by the launch of the “National Microbiome Initiative” by the American government earlier this year. In addition to the Tübiom project, CeMeT has been a service partner of universities and clinics in the field of microbiome analysis since it was founded in 2014. Analysis is performed using state of the art techniques.