- Science & Education
Gain medical insights and genetic expertise
Welcome to the knowledge portal of CENTOGENE – a resource to explore scientific research and clinical diagnostic findings in the area of human genetics. Bookmark this page for future reference and watch for updates.
CENTOGENE is dedicated to providing the global medical community with the latest news and opportunities to connect with each other, giving physicians and researchers the information they need to improve the lives of cancer and/or hereditary disease-affected patients around the world.
Discover, participate and apply, by sharing your expertise; let us support you in your clinical practice and bring about improvements that benefit your patients and others around the world.
Latest Scientific Articles
CentoWebinar - A journey to the future: Whole genome sequencing for the diagnosis of heterogeneous genetic disorders
Last year CENTOGENE announced its new sequencing facility for rare hereditary disorders, which uses Illumina’s HiSeq X® sequencer. Now, some months after our journey started, our CSO Prof. Peter Bauer will explain CENTOGENE’s experience using this groundbreaking next generation sequencing (NGS) technology for the clinical diagnosis, give some insights in whole genome sequencing and show interesting clinical cases.
Albinism is an inherited genetic condition that reduces the amount of melanin pigment formed in the eyes, skin, and/or hair. The most common form of albinism is oculocutaneous albinism (OCA), a group of autosomal recessive disorders caused by a reduction of melanin biosynthesis in the melanocytes resulting in hypopigmentation of the hair, skin, and eyes.
CentoWebinar on demand - Solving the diagnostic riddle: Diagnosing heterogeneous genetic disorders with whole exome sequencing
Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, a whole exome sequencing test examines thousands of genes simultaneously.
Evidence for inflammation in Fabry’s disease? Headache and muscle involvement responding to corticosteroid and methotrexate treatment
We report the case of a 38-year-old female patient who had been diagnosed as lupus erythematosus because of generalized muscle and burning pain combined with slightly elevated C-reactive protein (CRP) and antinuclear antibodies (ANA) 1:640. Twelve years later, Fabry’s disease was diagnosed by molecular genetics. Lupus erythematosus and any other co-morbid rheumatologic diseases were falsified retrospectively and prospectively according to international classification criteria. This case illustrates, that in addition to the deposition of lyso-gb3 secondary inflammatory mechanisms may play an important role in the pathophysiology of symptoms in Fabry’s disease.
Posterior versus Anterior Circulation Stroke in Young Adults: A Comparative Study of Stroke Aetiologies and Risk Factors in Stroke among Young Fabry Patients
Although 20–30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18–55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI.
CentoWebinar on demand - A race against the clock - Diagnosing genetic conditions in newborns and children
Up to one third of all babies and children admitted to the intensive care unit (ICU) have a genetic disease. For many of them early identification can make a difference for their immediate and later health.
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD.
Gaining deep insights into whole exome sequencing (WES) workflow from lab to report and benefit from experiences via intensive Hands-on courses supervised by our experts.
CentoWebinar on demand - How whole genome sequencing is changing the status quo of medicine November 2016
WGS identifies nearly all changes in a patient’s DNA by sequencing the entire coding and non-coding regions of the genome and provides detailed information on the thousands of genes involved in normal growth and development and all of the ‘silent’ genome regions simultaneously.
A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients selected displayed a wide variety in the number, nature and severity of symptoms. Clinical information given by the requesting physicians was translated to HPO terms and WES was performed on patient samples according to standardized settings.