New research has discovered that some patients with motor neuron disease (MND) and frontotemporal dementia (FTD) carry the same rare genetic defects that cause other neurodegenerative diseases.

An HIV-derived nucleoside therapy now treats rare genetic diseases by restoring mitochondrial DNA and improving muscle ...

Please provide your email address to receive an email when new articles are posted on . The expression of GSDMB was high in children with a 17q21 genetic variant. These children did not have ...

Myotonic dystrophy is thought to be caused by the binding of a protein called Mbnl1 to abnormal RNA repeats. In these two images of the same muscle precursor cell, the top image shows the location of ...

Researchers at Gladstone Institutes have identified genetic mechanisms involved in heart defects that develop in some fetuses born to diabetic women. They discovered these mechanisms at work in a ...

A single change in a persons DNA can contribute to a range of life-shortening risk factors, including high blood pressure, high cholesterol, and other metabolic disorders. A single change in a persons ...

New research from Queen Mary University of London (QMUL) has identified a novel syndrome in patients with kidney and adrenal disease. The research, published in the Journal of Clinical Investigation, ...

A new study has found that some patients with motor neuron disease and dementia share genetic mutations. A collaboration of researchers across institutions in Australia has discovered that the rare ...

The New Year is a time to evaluate and to take steps to improve our lives. Obviously, birth is the ultimate new beginning, and it is appropriate that this month is National Birth Defects Awareness ...