Genetics

Late-breaking mutations may play an important role in autism

A study of nearly 6,000 families, combining three genetic sequencing technologies, finds that mutations that occur after conception play an important role in autism. A team led by investigators at Boston Children's Hospital ...

Oncology & Cancer

Mutant cells colonize our tissues over our lifetime

By the time we reach middle age, more than half of the oesophagus in healthy people has been taken over by cells carrying mutations in cancer genes, scientists have uncovered. By studying normal oesophagus tissue, scientists ...

Diseases, Conditions, Syndromes

Mutating coronavirus: what it means for all of us

An important milestone in the fight against COVID-19 came in early January 2020, when the entire viral genome of the novel coronavirus that causes the diseasewas sequenced for the first time. Since then, the full coronavirus ...

Ophthalmology

Rare gene variant linked to macular degeneration

An international team of researchers, led by scientists at The Genome Institute at Washington University School of Medicine in St. Louis and the University of Michigan School of Public Health in Ann Arbor, has identified ...

Genetics

New screening test for those at risk of sudden cardiac arrest

New research from the Victor Chang Cardiac Research Institute will allow families around the world to discover if they are carrying genetic mutations that cause sudden cardiac arrest—a condition that kills 9 out of 10 victims.

Diseases, Conditions, Syndromes

Iron buildup in brain linked to higher risk for movement disorders

A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and diabetes. Scant and conflicting ...

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