A graph-based computational tool for detecting previously invisible genetic mutations has been developed. Researchers at the University of California, Los Angeles (UCLA; USA) and the University of ...

CHARGE syndrome is a complex congenital disorder that presents with a spectrum of multisystem anomalies, including ocular coloboma, choanal atresia, congenital heart defects, and ear malformations, as ...

The ARX gene, which encodes a paired-type homeobox transcription factor, is crucial in forebrain development and interneuron specification. Mutations in ARX have been implicated in a spectrum of ...

New AI-enabled research tool, Cardiovascular Knowledge Graph (CardioKG), connects heart scans with genetics, boosting drug ...

A groundbreaking study has uncovered how specific genetic mutations influence cancer treatment outcomes -- insights that could help doctors tailor treatments more effectively. The largest study of its ...

Chickens are one of the most important livestock globally, serving not only as a primary source of high-quality protein for humans but also carrying unique genetic characteristics across different ...

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 ...

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 ...

What Is the MTHFR Gene Mutation? The MTHFR gene mutation is a variation in the MTHFR gene. This gene normally tells your body how to make the MTHFR protein. You need this protein to process folate, ...

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 ...