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Tag: Developmental disorders

Projects

22 March 2021

Important jigsaw piece for the therapy of rare genetic diseases discovered

Many human cell types have a precise calcium uptake mechanism. One gene in which part of the blueprint for these so-called calcium channels is encoded is also partly to blame for a rare human developmental disorder that triggers epilepsy and autism. A research group from Innsbruck is exploring these links and working on a potential […] Continue reading “Important jigsaw piece for the therapy of rare genetic diseases discovered”

Projects

21 January 2019

Shortening the path to diagnosis

An interdisciplinary research group in Graz looked for biomarkers that could already provide indications during the first year of life of developmental disorders such as fragile X syndrome, which are still detected (too) late. The researchers analysed early-childhood vocalisation and movement patterns of children with a definite diagnosis. Continue reading “Shortening the path to diagnosis”

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