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 ...

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 ...

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

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 ...

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

Dr. Matthew Anderson was appointed co-director of the Oxford-Harrington Rare Disease Centre, a partnership between the ...

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.' ...