Although the genetic cause of many diseases have been identified, it's estimated that as many as 70% of patients with a rare ...

Around 3 in 2,000 people are born with hearing loss. Typically irreversible, it's a lifelong condition that often presents ...

Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...

Researchers at Baylor College of Medicine have discovered that certain p53 mutants hijack the DNA replication machinery ...

A new study headed by teams at the Wellcome Sanger Institute, EMBL’s European Bioinformatics Institute (EMBL-EBI), and Open Targets has indicated how mutations that cause cancer drug resistance fall ...

A man sits outside and holds a slim menthol cigarette between his fingers. Close-up with focus on the cigarette. The study provided a comprehensive examination of how lifestyle and environmental ...

Synonymous mutations have long been ignored in cancer studies since they don’t affect the amino acid sequences of proteins. But research increasingly reveals that they can have disease-driving effects ...

The gene p53 acts as a tumor suppressor and is often called the guardian of the genome. This gene is central to maintaining genomic stability, which prevents mutations from accumulating and leading to ...

Although previously thought to be neutral, research in yeast suggests that synonymous point mutations may have strongly nonneutral effects. A group of researchers from the University of Michigan (MI, ...

A new study reveals 42 hereditary genes which predispose individuals to a higher number of mutations that correlate with a greater probability of developing cancer. A study of 11,000 cancer patients ...