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

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 ...

Scientists at La Jolla Institute for Immunology (LJI) have discovered how a mutated gene kicks off a dangerous chain of events during blood cell production. "We know that many diseases—and all cancers ...

Mixed autism with developmental delay: Roughly 19 percent showed early developmental delays but few signs of anxiety, ...

Recent advances in DNA sequencing, combined with new stem cell research approaches, have allowed an international group of scientists to identify a previously unrecognized form of diabetes that ...

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 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 ...

Hormones can have a significant impact on the body, and many of them are produced and released from the pituitary gland. In a condition called hypopituitarism, there is a problem with the production ...

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, ...