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 ...

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 ...

First responders continue to help young girl with rare disease collecting patches to decorate hospit ...

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

DALLAS - A North Texas mother diagnosed with a rare heart disease at 22 years old has been on a 14-year journey of faith and ...

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

THIRUVANANTHAPURAM: Dr Giovani Baranallo, professor of paediatric neuromuscular disorders at University College London, ...

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