Researchers have used a personalised base-editing gene therapy to successfully treat an infant with carbamoyl-phosphate ...

Resources are available to help physicians when they encounter variants of unknown significance during genetic testing, Troy ...

For example, they can reduce their overall stability ... "No one else has studied the impact of pathogenic missense mutations on a scale like this, where we've tracked the movement of proteins ...

For example, AlphaMissense, an AI model also from DeepMind, has the ability to predict whether genetic mutations (missense variants) are harmful, helping scientists identify disease-causing ...

The second pair, HumVar 3, consists of all the 13,032 human disease-causing mutations from UniProt and 8,946 human nonsynonymous single-nucleotide polymorphisms (nsSNPs) without annotated ...

Using the gene scissors CRISPR and stem cells, researchers at Stockholm University and the UK Dementia Research Institute (UK DRI) at King's College London have managed to identify a common ...

For example, if a protein's activity is dialed ... Ng et al, Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer, Cell Genomics (2025).

Previous work has tended to focus on mutations in regions of the genome that don't change that often. But the changeable regions might be highly repetitive, for example, which has presented obstacles ...

A generations-long culture of deep-diving among women on a South Korean Island may have changed their genetic evolution. A study shows potential for medical discoveries.