Medical research

Genetic cause of congenital malformation discovered

Spontaneous mutations of a single gene are likely to cause serious developmental disorders of the excretory organs and genitalia. This is shown in an international study led by the University of Bonn and published in the ...

Genetics

Novel approach reduces SCA1 symptoms in animal model

Research has shown that a mutation in the ATAXIN-1 gene leads to accumulation of Ataxin-1 (ATXN1) protein in brain cells and is the root cause of a rare genetic neurodegenerative disease known as spinocerebellar ataxia type ...