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 ...

Genetic changes that create ever-expanding numbers of identical sperm cells are more widespread than previously thought, ...

Two siblings who have the only known mutations in a key gene anywhere in the world have helped scientists gain new insights that could help progress the search for new treatments in type 1 diabetes.

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 ...

Genetic testing is recommended for those with personal and family histories of several types of cancer — including pancreatic and breast cancer. Even though a large proportion of cancer patients carry ...

Mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss, an international team of ...

Genetic testing, often via a blood sample, can confirm a muscular dystrophy diagnosis. It can also identify specific gene mutations to help guide treatment and determine whether or not someone is a ...

An affordable new BRCA gene test has hit the market, but who should take it? — -- A new genetic testing kit that hits the market today is the most affordable, and arguably one of the simplest, ...