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 ...

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 ...

Mutations are changes in the molecular "letters" that make up the DNA code, the blueprint for all living cells. Some of these changes can have little effect, but others can lead to diseases, including ...

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 ...

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 ...

Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

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 ...