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

  • CentoWebinar - NGS and beyond: Pioneering the new genome-based panel generation

    Tired of spending significant money and time only to end up with negative results? Join this webinar to discover a complete and unique test with increased diagnostic accuracy and significant time and cost savings.

  • Fanconi anemia

    Fanconi Anemia (FA) is a rare inherited chromosome breakage syndrome characterized by physical abnormalities, bone marrow failure, and an increased risk of development of various malignancies. FA is the most common genetic cause of aplastic anemia and is one of the most common genetic causes of hematologic malignancy, with an estimated prevalence of 1:100,000 live births.

  • Non-syndromic sensorineural deafness - autosomal dominant

    Hearing loss, also known as deafness, is the inability of affected person to hear. Hearing loss can be caused by a number of different factors, including genetics, environment, birth complications, trauma, certain medications or toxins, and many others. Hereditary hearing loss (“congenital deafness”) is one of the most common birth defects and it affects 1-3 of 1000 newborns worldwide.

  • Pancreatitis

    There are a variety of disorders of the pancreas including acute pancreatitis, chronic pancreatitis, hereditary pancreatitis, and pancreatic cancer. Signs and symptoms of pancreatitis may vary, depending on the disease. Hereditary pancreatic diseases are inflamatory diseases of pancreas, most often genetically caused by abnormal regulation of trypsin, the master regulator of pancreatic digestive enzyme activation.

  • Bardet Biedl

    Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by retinal dystrophy, obesity, renal abnormalities, genital abnormalities, postaxial polydactyly, and learning difficulties. To date, mutations in more than 20 different genes have been described as being responsible for BBS.

  • Amyotrophic lateral sclerosis (ALS)

    Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disorder characterized by progressive degeneration of the upper and lower motor neurons. Most cases appear to be sporadic, but 5-10% of cases have a family history of the disease. Since the discovery of mutations in gene encoding superoxide dismutase type 1 (SOD1), which account for ∼2% of ALS cases, the understanding of the ALS genetic component and ALS risk has increased significantly, leading to better personalized treatment and revealing the mechanisms that cause motor neuron death.

  • Arrhythmia, hereditary

    Sudden unexplained death is a major source of mortality in developed countries; the major causes (in the absence of the structural heart disease) are primary cardiac arrhythmia syndromes or electrical cardiac diseases ('channelopathies').

  • Arrhythmogenic right ventricular cardiomyopathy

    Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/ARVC) is a heritable heart-muscle disorder which causes progressive replacement of right ventricular myocardium by fibrofatty tissue. ARVD is an important cause of sudden cardiac death (SCD) in young adults, accounting for 22% of cases among athletes and 11% of all cases.

  • Long QT syndrome

    Long QT syndrome (LQTS) is a rare cardiac disease associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. LQTS is a cardiac electrophysiologic disorder, characterized by changes in the electrocardiogram (ECG), such as QT prolongation, T-wave abnormalities, accompanied by the ventricular tachycardia torsade de pointes (TdP).

  • CentoWebinar on demand - A journey to the future: whole genome sequencing for the diagnosis of heterogeneous genetic disorders

    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.


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