A new undiagnosed neurological syndrome that is characterized by brain malformations and a range of symptoms including visual impairment, epilepsy, developmental delays and intellectual disability
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Neurological diseases are typically associated with a multitude of molecular changes. But out of thousands of changes in gene expression, which ones are actually driving
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Scientists are expanding their horizons in their search for disease-causing genes. Consider for instance a neurological condition called spinocerebellar ataxia type 1 (SCA1), a disease
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Years back, the Bellen lab identified many mutations in genes of the mitochondria, the energy generators of the cell. Among them was a mutation in
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Juvenile Batten disease is one of nearly 50 human cellular waste storage disorders. In the Sardiello lab, researchers use genetics, cell biology and systems biology approaches
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