A rare form of diabetes is emerging in the very first weeks of life, reshaping how doctors think about blood sugar disorders ...

Investigations suggest V2P may be efficiently applied for the automated identification of causal variants in simulated and actual patient sequencing data across phenotypes.

A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...

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 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 ...

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 ...

A rare genetic mutation that causes a deficiency in an immune regulator called ISG15 is known to make people more vulnerable to some bacterial infections and cause persistent inflammation — but it can ...

Maureen Sideris, seated, with her sister Marion, receiving the 8th of 9 immunotherapy infusions during successful treatment for early-stage gastroesophageal junction cancer at Memorial Sloan Kettering ...

Before Todd Leach lost his father to a rare, aggressive form of stomach cancer, his dad gave him one last gift: a genetic ...

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, ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...