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 ...

Genes hold the recipe for proteins, which are made of amino acids. DNA only has four letters, or nucleotides, and each sequence of three nucleotide bases, or codon, encodes for one amino acid. There ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to ...

Researchers at Google DeepMind, the tech giant's artificial intelligence arm, on Tuesday introduced a tool that predicts whether genetic mutations are likely to cause harm, a breakthrough that could ...

Harlequin ichthyosis (HI) is a severe genetic skin disorder characterized by thick white, brown, or dark brown patches on the skin covering a newborn's entire body. HI has a low incidence of 1 per 300 ...

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 ...

Fourteen million people worldwide suffer from enlarged hearts, or hypertrophic cardiomyopathy (HCM), a genetic disease that thickens the heart's walls, making it harder for the organ to pump blood - ...

Using whole genome sequencing, researchers identified a single variant in a microRNA gene, MIR145-5p, as the source of multisystemic smooth muscle dysfunction syndrome, which had gone undiagnosed in a ...

A gene mutation known to develop into one of Queensland’s deadliest cancers could be hiding in your skin undetected. Findings from University of Queensland revealed people who were at a higher risk of ...