Science & Education

 

Genes do not encode secrets, they reveal them.

Prof. Dr. Hans-Jürgen Quadbeck-Seeger

German chemist

  1. 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

  • CentoCloud® Oncology – a complete oncogenetic workflow in your hands

    Looking for a one-stop-solution for your laboratory? Join this webinar to learn more about our CentoCloud® for diagnostic NGS panels, clinical bioinformatics & medical interpretation in the oncogenetic workflow.

  • Gastric cancer

    Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant susceptibility for diffuse gastric cancer, a poorly differentiated adenocarcinoma localized in the stomach wall. Gastric cancer is one of the most common cancers in the world, with the highest incidence rates in Japan (80 cases per 100,000) and eastern Asia.

  • Ovarian cancer

    Ovarian cancer is the most lethal of all gynecological cancers, and the annual incidence of ovarian cancer is 12.1 per 100,000 women. Familial ovarian carcinoma has been described in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Inherited in an autosomal dominant fashion, HBOC is characterized by an increased risk for female and male breast cancer, ovarian cancer and other cancers. Known genetic causes of HBOC have largely been explained by germline pathogenic variants in the BRCA1 and BRCA2 genes.

  • Periodic fever syndrome

    Periodic fever syndrome is a group of diseases characterized by episodes of fever with healthy intervals between febrile episodes. The main inherited periodic fever syndromes are familial Mediterranean fever (FMF) caused by pathogenic variants in MEFV, periodic fever, familial caused by pathogenic variants in TNFRSF1A, Muckle-Wells syndrome caused by pathogenic variants in NLRP3, cyclic neutropenia caused by pathogenic variants in ELANE, Majeed syndrome caused by pathogenic variants in LPIN2, hyper-IgD syndrome caused by pathogenic variants in MVK and pyogenic sterile arthritis caused by pathogenic variants in PSTPIP1.

  • Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

    The objective of this study is to define the clinical phenotype and natural history of sporadic adult-onset degenerative ataxia and to identify putative disease-causing mutations. The primary measure of disease severity was the Scale for the Assessment and Rating of Ataxia (SARA). DNA samples were screened for mutations using a high-coverage ataxia-specific gene panel in combination with next-generation sequencing. The analysis was performed on 249 participants. Our study provides quantitative data on the clinical phenotype and progression of sporadic ataxia with adult onset.

  • Heart and nervous system pathology in compound heterozygous Friedreich ataxia

    In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion, point mutation, or insertion in the other. In 2 cases of compound heterozygous FA, the GAA expansion was inherited from the mother, and deletions from the father.

  • Generalized epilepsy with febrile seizures

    Epilepsy (generalized) with febrile seizures is a complex autosomal dominant disorder characterized by generalized febrile convulsions. Febrile seizures are the most common convulsive event occurring in 2-6% of the population. The lifetime prevalence of febrile seizures is estimated at 3-4% of all children in Europe and North America and is even higher in Japan and Scandinavia.

  • Thrombocytopenia

    Thrombocytopenia is a disorder of haematopoetic cells with predominant defects of platelets and it is defined as having a platelet count of less than 150,000 in mL of circulating blood, while the normal number of platelets ranges between 150,000 and 450,000 cells per mL of blood. Platelets are haemopoetic cells that play a primary role in haemostasis, interacting with subendothelium-bound von Willebrand factor (VWF) via the membrane glycoprotein complexes.

  • Activation of PKC triggers rescue of NPC1 patient specific iPSC derived glial cells from gliosis

    Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely understood. Especially the contribution of glial cells and gliosis to the progression of NPC1, are controversially discussed. As an analysis of affected cells is unfeasible in NPC1-patients, we recently developed an in vitro model system, based on cells derived from NPC1-patient specific iPSCs.

  • Methylmalonic acidemia

    Methylmalonic acidemia (MMA) is an autosomal recessive disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA. The prevalence of methylmalonic acidemia is estimated between 1:50,000 and 1:100,000. In Japan, the birth prevalence may be as high as 1:50,000.