Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...

Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

Identifying and classifying gene mutations - which are the permanent changes in a person's DNA genetic code - are critical in better understanding, and with research, eventually treating or preventing ...

Genetic mutations aren't always a bad thing. A groundbreaking new study suggests that mutations on a single gene may actually be beneficial when it comes to Alzheimer’s disease. For the study, Dr.

Less than 30% of people with certain genetic variants go blind, despite the faulty genes previously being thought to cause ...

Take a look back at the genetics stories that resonated most with readers this year. M uch of what shapes people’s lives ...

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 ...