A wide spectrum of human neurological diseases linked to variations of one gene, DHX9
This study shows that gene DHX9 is involved in regulating mammalian neurodevelopment and neuronal well-being.
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New undiagnosed disease linked to variants of WDR37 gene
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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Sorting out what drives Huntington’s disease
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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When protein regulators go awry, neurological disease may follow
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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How disrupting mitochondria genes can lead to neurodegeneration
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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Image of the Month: Mouse brain with Batten disease
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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