Neuroscience

Genetic modifier for Huntington's disease progression identified

A team led by UCL and Cardiff University researchers has developed a novel measure of disease progression for Huntington's disease, which enabled them to identify a genetic modifier associated with how rapidly the disease ...

Genetics

A new mutation in kidney disease

Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic ...

Genetics

Genes responsible for severe congenital heart disease identified

The first known identification of two genes responsible for hypoplastic left heart syndrome (HLHS), a severe congenital heart defect, has been reported by researchers at the University of Pittsburgh School of Medicine. The ...

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