POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

A mother has spoken about her "painful" experience over the potential end to her son's life-enhancing treatment for a rare ...

Raziel Green, 52, an active runner and mother of two, was diagnosed with a rare form of ALS in 2017. Since starting a clinical trial nearly eight years ago, her symptoms have not gotten any worse.

Rare diseases - a medical condition so obscure that even your doctor has to Google. Despite their name, these diseases ...

At an event announcing the launch of the exhibition, Zhai Jin, a patient with osteogenesis imperfecta, a genetic bone ...

Subtle changes in the eyes can reveal serious health issues like dementia, diabetes, and high cholesterol. The eyes can ...

Genetically targeted technologies are built on Nobel Prize-winning science. They represent a scientific “quantum leap” that ...

ROCKY HILL, Conn. (WFSB) - First responders continue to meet the request for a young girl with a rare disease. Earlier this ...

The Cherokee Nation Health Services Rare Disease Task Force has released a report outlining progress made over the past year ...

Rare diseases affect one in 17 people in the UK, but a Government initiative designed to improve their quality of life will ...

Affected populations: POLG-related diseases are a group of rare, incurable conditions caused by inherited gene mutations. These disease-causing mutations are carried by up to 2% of people of ...

An ex-RAF nurse has said that the detection of her rare disease was all thanks to an accidental collision with her family's ...