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A database tool designed to link molecular biologists and clinical geneticists built the crucial bridge between laboratory and patient: a young man from an Eastern European country, suffering from the effects of a specific mutation as the only one among four siblings; degenerated nerves and brain, cognitive defects, spasticity, limits in his capacity to respond to stimuli or control his muscles and epilepsy are among a long list of symptoms that characterised his condition. He passed away at the age of 19.
For the scientists in the lab of David Keays at the Research Institute of Molecular Pathology (IMP) in Vienna, finding this patient was the last piece in a puzzle. Long before they reached out to clinical geneticists, they had started to screen mice for mutations with an impact on neural migration.
Vertebrate - Brains - Generation - Migration - Differentiation
Developing vertebrate brains crucially depend on the correct generation, migration, differentiation and survival of nerve cells. All of these are processes that require the orchestration of a high number of genes and their corresponding proteins, each of which can be disrupted in their normal role by mutations. Using biochemical methods to induce mutations, the scientists identified Vps15 as one genes that was required for normal neuronal development, as they reported now in the journal Nature Neuroscience.
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