A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...

Researchers have created an artificial intelligence model that can identify which mutations in human proteins are most likely ...

A California toddler is the first person in the world to receive gene therapy to treat his devastating disease.

Instead of requiring personalized gene edits for each patient, the new approach could create a standardized method to use for ...

The inventor of base and prime editing shares insights on medicine's efforts to make serious genetic diseases treatable or ...

Rutgers neuroscientist Peng Jiang and his neuroscience colleague Mengmeng Jin have made a discovery they say could reshape ...

Rare diseases reveal that our sense of identity rests on fragile biological infrastructure, much of it operating outside ...

The seven-year medical odyssey that once defined rare disease diagnosis is being rewritten by algorithms capable of identifying medical zebras in the time it takes to refresh your social media feed.

SAN FRANCISCO -- As a young pediatrician in San Francisco, Priscilla Chan said she would feel embarrassed when she would walk into a young patient's room and not know anything about the rare disease ...

On the outside Jack Linehan appears to be like any other kid his age. Up until two years ago, the nine-year-old with long, ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...