Zeitschrift medizinischegenetik

Organ der Deutschen Gesellschaft für Humangenetik, der Österreichischen Gesellschaft für Humangenetik, der Schweizerischen Gesellschaft für Medizinische Genetik und des Berufsverbandes Deutscher Humangenetiker.


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Themenschwerpunkte: Aktuelle Ausgaben

Imprinting Disorders: Novel Findings and Translation into Diagnostics and Management  

Issue 4/2020

Imprinting disorders (ImpDis) are a group of human congenital diseases involving one or more genes that are expressed from only the paternal or the maternal allele. Currently about a 100 imprinted human genes and twelve imprinting disorders have been recognized. From a clinical point of view, imprinting disorders are a heterogeneous group of diseases, which mainly affect growth, neurodevelopment and metabolism, but there is a considerable phenotypic overlap between some disorders (e. g. the Prader-Willi, Temple and Schaaf-Yang syndromes).

Scientific Coordinators: Thomas Eggermann, Bernhard Horsthemke


Genetics of peripheral neuropathies    

Issue 3/2020

Peripheral neuropathy, the result of damage mostly to peripheral motor and sensory nerves, often causes muscle weakness, numbness and pain, usually beginning in the hands and feet. Autonomic nerves that control blood pressure, heart rate, digestion and bladder function may also be affected. Peripheral neuropathies, or polyneuropathies, are relatively common with an estimated prevalence in the general population of 2.5 %, and as high as 8 % at over 55 years of age. The causes are manifold and include immunological, metabolic, toxic or infectious as well as hereditary etiologies with many different genes being involved. In this issue the journal medizinischegenetik deals with the different aspects of heritable neuropathies.

Scientific Coordinator: Ingo Kurth


Genetic diagnostics and therapeutic approaches for hereditary auditory disorders

Issue 2/2020

Hearing loss (HL) is the most common sensory disorder and, from a human genetic perspective, an extremely heterogeneous and challenging disease. Recent statistics from the World Health Organization estimate that HL affects approximately 466 million individuals globally, which corresponds to roughly 6 % of the world population [1]. Its etiology falls under three umbrellas; namely, acquired, idiopathic, or genetic, with most idiopathic cases suspected to have a genetic cause.

Scientific Coordinators: Thomas Haaf, Barbara Vona

Genomics and epigenomics of psychiatric disorders

Issue 1/2020

Despite its high frequency and many decades of researc, the biological basis of psychiatric disease remains poorly understood. This has implications in terms of treatment, with many currently available therapies showing limited efficacy or, in the case of drug therapy, adverse side effects. For many years, researchers have hoped that breakthoughts in the biological understanding of psychiatric disease could be achieved through the use of genetic approaches. Even early descriptions of psychiatric disorder cases reported a familial occurance.     

Scientific Coordinator: Markus Nöthen

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