Deafness, the most common sensorineural hearing loss at all stages of life, occurs either independently or as part of ...

The neurodevelomental disease Rett syndrome is usually caused by mutations in a gene called MECP2, which is located on the X chromosome. Patients lose coordination, mobility, and their ability to ...

Nearly 1 in 7 adults in the United States lives with chronic kidney disease, a condition that often advances quietly until ...

In humans, hundreds of proteins interact in a complex network dubbed the interactome. Those interactions are further complicated when disease-causing mutations are introduced into genes that code for ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism by which brain cells die. The findings raise the possibility that similar ...

Researchers in the RIKEN Center for Brain Science (CBS) examined the genetics of autism spectrum disorder (ASD) by analyzing mutations in the genomes of individuals and their families. They discovered ...

This important study introduces a new biology-informed strategy for deep learning models aiming to predict mutational effects in antibody sequences. It provides solid evidence that separating ...

A lung cancer diagnosis can feel frightening. And when a family member is diagnosed, you might wonder about your own risk, prompting you to ask if lung cancer is hereditary. Smoking tobacco accounts ...

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors with almost no way to intervene. Researchers have now traced that ...