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 ...

Neurogeneticists have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain -- a type of buildup distinct from amyloid or tau, proteins that have long been the ...

Mutations in the tumor suppressor TP53 are a common cause of cancer, making the altered protein an attractive target for ...

While most known types of DNA damage are fixed by our cells' in-house DNA repair mechanisms, some forms of DNA damage evade repair and can persist for many years, new research shows. This means that ...

A new long-read sequencing technique has helped researchers investigate how DNA mutations arise in a variety of contexts. A collaboration of researchers led by NYU Langone Health and NYU Grossman ...

From the time we are conceived and through old age, genetic mutations accumulate in all our tissues, eluding the body’s typically efficient DNA repair machinery and potentially affecting our health ...

Scientists at the Icahn School of Medicine at Mount Sinai have developed a novel artificial intelligence tool that not only identifies disease-causing genetic mutations but also predicts the type of ...

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 ...

Scientists have created a new technique that can assess how mutations in the genome influence the packaging of DNA in cells. The genome is massive, and has to be carefully wrapped around proteins so ...

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