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Hereditary Diseases

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  • Quality assurance in cells power plants

    Mitochondria generate most of the energy cells need through a respiratory chain for which they must produce their own proteins. The research group of Associate Professor Henna Tyynismaa, University of Helsinki, Finland, has discovered a "quality control" mechanism in the mitochondria, which is neces more

  • Detour diagnosis

    In about half of all patients with rare hereditary disorders, it is still unclear what exact position of the genome is responsible for their condition. One reason for this is the enormous quantity of information encoded in human genes. Scientists from the fields of informatics and medicine have now more

  • Helping to solve a great mystery in the organization of our DNA

    After decades of research aiming to understand how DNA is organized in human cells, scientists at the Gladstone Institutes have shed new light on this mysterious field by discovering how a key protein helps control gene organization. Humans have nearly 30,000 genes that determine traits from eye col more

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