Science & Education

 

Genes do not encode secrets, they reveal them.

Prof. Dr. Hans-Jürgen Quadbeck-Seeger

German chemist

  1. Science & Education

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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.

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Latest Scientific Articles

  • Myofibrillar myopathy

    Myofibrillar myopathies (MFM) are group of neuromuscular diseases characterized by slowly progressive weakness that can involve both proximal and distal muscles. MFM primarily affects skeletal muscles and in some cases cardiac muscle. The signs and symptoms of MFM vary widely among affected individuals, typically depending on the genetic cause. Most people with this disorder begin to develop muscle weakness in mid-adulthood.

  • Kallmann syndrome and hypogonadotropic hypogonadism

    Kallmann syndrome is a developmental genetic disorder characterized by delayed or absent puberty and impaired sense of smell and it belongs to isolated gonadotropin-releasing hormone deficiencies. Deficient hypothalamic gonadotropin-releasing hormone (GnRH) secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. The result is hypogonadism; infertility; and absent, incomplete, or partial pubertal maturation.

  • Optic atrophy

    Optic atrophy (OPA) is a neuro-ophthalmic condition characterized by a bilateral degeneration of the optic nerves, causing severe visual loss, typically starting during the first decade of life. The disease affects primarily the retinal ganglion neurons and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the deeper brain visual centers.

  • Muscular dystrophy

    Muscular dystrophies are inherited neuromuscular diseases characterized by weakness and wasting due to muscle dysfunction. Age of onset, severity, progression and histopathological findings are variable between different subtypes of muscular dystrophies. Muscular dystrophies include a heterogeneous group of neuromuscular disorders.

  • Urea cycle disorder

    Urea cycle disorders are a group of genetic disorders caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted to a compound called urea in the blood. In urea cycle disorders, where the crucial enzymes of the urea cycle are deficient or absent, the nitrogen accumulates in the form of highly toxic ammonia resulting in the state of hyperammonemia. Increased levels of blood ammonia can cause irreversible brain damage, coma, and death.

  • Childhood absence epilepsy

    Childhood absence epilepsy (CAE) is a form of hereditary pediatric epilepsy, characterized by very frequent absence seizures. This formusually soccurs in children between the ages of 4 and 10 years and in most cases has a good prognosis. CAE accounts for 10-17% of all cases of epilepsy diagnosed in school-aged children 1 and its incidence has been estimated at 1-8 per100,000. Females are usually more affected than males, representing 60-76% of patients. Childhood absence epilepsy is characterized by frequent absence seizures with abrupt onset and offset. Photosensitivity is reported in 18% of CAE patients. In rare cases CAE is also associated with increased rates of adverse behavioral, psychiatric, language, and subtle cognitive changes, including attention deficit hyperactivity disorder (ADHD), anxiety, and depression.

  • Arthrogryposis

    Arthrogryposis is a clinical feature of joint contractures and resulting restriction of movements and is characteristic for more than 300 different disorders. Arthrogryposis, e.g. congenital contractures, can be isolated contractures, affecting only a single area of the body, or multiple. The most common isolated contracture is congenital clubfoot, which occurs in one of every 500 live births. The overall prevalence of arthrogryposis is one in 3000 live births.

  • C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

    Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and painful joints and a hoarse voice. FD phenotypes are heterogeneous varying from mild to very severe cases, with the patients not surviving past their first year of life. This study has the highest number of enrolled Farber patients and carriers reported to present. Liquid chromatography multiple reaction mass spectrometry (LC/MRM-MS) studies revealed that the ceramide C26:0 and especially its isoform 1 is a highly sensitive and specific biomarker for FD (p < 0.0001). The new biomarker can be determined directly in the dried blood spot extracts with low sample consumption. This allows for easy sample preparation, high reproducibility and use in high throughput screenings.

  • Cerebellar ataxia

    Cerebellar ataxias are a highly heterogeneous group of genetic disorders distinguished by abnormal wide-based gait, irregular eye and hand movements, speech difficulties, and morphologically characterized by cerebellar atrophy. Ataxia is a neurological feature of abnormal gait due to the lack of appropriate muscle coordination and it is a common clinical symptom in hundreds of different diseases. Hereditary ataxias are caused by changes in more than 50 genes and can be inherited in autosomal dominant, recessive, X-linked or mitochondrial fashion.

  • Early infantile epileptic encephalopathy

    Epileptic encephalopathies represent a group of severe epileptic diseases with an early onset, characterized by severe electroencephalographic abnormalities and resistance to standard anti-epileptic treatment. According to the International League Against Epilepsy (ILAE) epileptic encephalopathies (EEs) are defined as conditions in which the epileptiform abnormalities are believed to contribute to progressive disturbance in cerebral function, e.g. developmental delay and intellectual disability.