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 ...

For centuries, we’ve thought of these changes as part of the "genetic lottery," something we can't control. Science is now ...

Mitochondria act as energy factories in cells and have their own, separate DNA. Mutations to mitochondrial DNA (mtDNA) have ...

Sickle cell disease (SCD) is a group of hereditary red blood cell disorders. Sickle cell anemia is a type of SCD that occurs when a person inherits genes containing an atypical form of hemoglobin.

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 ...

Many scientific discoveries are serendipitous—the result of chance. Seeing evolution in action in a cheese cave turned out to ...

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 ...

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 ...

Researchers have identified a Colombian man carrying a never-before-seen genetic mutation that protected him from the symptoms of a rare, inherited form of Alzheimer’s, characterized by a very early ...