Genetics

Gene correction as a possible therapy for iron storage disease

Hereditary primary haemochromatosis is one of the most common inborn errors of metabolism in Europe. In this disorder, also known as iron storage disease, the body is overloaded with iron. The excess iron accumulates in organs ...

Genetics

'Gene overdose' causes extreme thinness

Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.

Genetics

Gene behind heart defects in Down syndrome identified

Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition that results from an additional copy of chromosome 21.

Neuroscience

New therapeutic strategies for spinal muscular atrophy

Modulating the activity of a kinase in motor neurons may help mitigate mitochondrial defects and other symptoms of spinal muscular atrophy, offering a new therapeutic avenue for the devastating disease, according to a Northwestern ...

Genetics

3D genome architecture influences SCID-X1 gene therapy success

Patients with X-linked severe combined immunodeficiency disorder (SCID-X1), sometimes called "bubble boy disease," are born with a defective gene that prevents them from producing immune cells. Gene therapy from St. Jude ...

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