A New Brunswick family's experience of genetic testing for what proved to be a rare disease helped spark a project that won a ...

Traditional biochemical methods of studying human gene mutations are often laborious and costly. Now bioengineers at the ...

People with diseases caused by rare mutations have fewer options and poorer prospects than other patients despite rapid ...

Monitoring blood levels of circulating tumor DNA in patients with stage 3 melanoma may accurately predict skin cancer ...

Legendary actor Gene Hackman reportedly tested negative for hantavirus pulmonary syndrome, the rare infectious disease that ...

A groundbreaking discovery from Israeli scientists is changing what doctors know about inherited heart disease. Researchers ...

Prevent Blindness, the nation's leading patient advocacy organization dedicated to preventing blindness and preserving sight, has designated May as its second annual "Inherited Retinal Disease (IRD) ...

In Senegal, Dr. Pedro Rodriguez is pioneering genetic research to connect patients with rare diseases to life-saving ...

A new Stanford blood test detects cancer and tissue damage by analyzing rare RNA fragments in the blood. Stanford Medicine ...

While the role of genetics in heart disease is still being studied, learning about your family history can empower you to ...

A major breakthrough in heart disease research has identified the gene TRIM63 as a significant cause of hypertrophic cardiomyopathy (HCM), the most common inherited heart condition globally.