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

Rare diseases, often underdiagnosed and overlooked, affect over 36 million people in the EU and around 300 million worldwide.

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

Experts outline eight rare but potentially serious diseases that dogs can contract, explaining risk factors, early warning ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to ...

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

EVE is a deep generative model combining evolutionary and human population data to estimate variant deleteriousness on a proteome-wide scale.

For the past eight years Jolene Van Alstine has suffered from a rare form of parathyroid disease, normocalcemic primary ...

The FDA approved the intrathecal gene therapy onasemnogene abeparvovec (Itvisma) to treat spinal muscular atrophy (SMA) in ...

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

With a population of over 670 million people in ASEAN, the total number of patients experiencing rare diseases and conditions ...