Genetics in a nutshell

CentoPedia – your essential epitome for genetic diagnostics.

Given the complexities of rare diseases, the limited natural history data, and the smaller pool of patients to participate in clinical development, CentoPedia supports you with background information on clinical pictures, involved genes and the recommended testing strategy.

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CentoPedia

  • Cataract

    Cataracts are a clouding of the lens in the eye, defined as opacification of the normally transparent crystalline lens. It is very common in older people and mostly related to aging. Cataracts can occur in one or both eyes affecting vision, i.e. clouding in the lens results in blurred vision.…

  • Catecholaminergic polymorphic ventricular tachycardia

    Catecholamine-induced polymorphic ventricular tachycardia (CPVT) is a pathological disorder triggered by intense physical exercise or acute emotional stress. These conditions could initiate abnormal heartbeat (ventricular tachycardia) which then leads to dizziness, syncope, and in worst cases sudden…

  • Albinism

    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…


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