Yentli Soto Albrecht, who is a genetic carrier of ALS, is working on research at Penn that could one day prove life-saving.

"CNBC Cures: Defying Rare Disease" will air on Thursday, March 19 at 7PM ET.

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 ...

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome.

A mother of two experienced falls, vision problems and memory loss due to a rare condition, MTHFR-related autosomal recessive ...

DeepRare AI system outperforms doctors at diagnosing rare diseases with 64.4% accuracy on first attempt. Find more about the ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

One mother told Newsweek she was "terrified" of losing access to the drug her daughter relies on as a result of an FDA ...

Natera NTRA announced the commercial launch of Zenith genomics, a next-generation whole genome sequencing assay designed to ...

Maria Baum was born with Williams syndrome, a genetic neurodevelopmental disorder strongly linked to cardiovascular disease ...

These puzzles showcase the base rate fallacy; the second one is also an example of the false positive paradox. When people ...

Transcript: Rare Diseases ...