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 ...

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

Blossom has gone from being 'completely paralysed' to walking up to her owner to greet her thanks to the public donating to ...

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

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

With rare diseases affecting 1 in 10 Americans and over 7,000 known conditions, the Cherokee Nation is taking a significant ...

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

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

Recent advances in AI, including machine learning, natural language processing, and deep learning models, are transforming ...

Johns Hopkins scientists develop mRNA "booster" as potential new way to treat rare genetic diseases marked by too low levels ...

Ensuring every newborn has access to life-saving screening and treatment is both a moral and economic imperative.' ...