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

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

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

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

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

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

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

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

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

A rare disease is generally defined as a condition that affects a very small proportion of the population. However, global ...