Iain Cheeseman and colleagues reveal the underappreciated role of single genes producing multiple proteins in atypical presentations of rare disease, and present case studies of affected patients ...

For decades, geneticists have known that most common illnesses are not caused by a single rogue gene but by intricate constellations of DNA variants acting together in specific cells. Now a new ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

"Monogenic" diseases, triggered by mutations in just one gene, may actually be more complex than scientists thought.

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

How innovative technologies like AI and gene editing are advancing rare disease drug discovery and development.

The FDA released a much-anticipated draft guidance on how makers of rare disease genetic medicines can leverage a platform approach to bring new therapies to market.