Genetics

Spontaneous mutations in key brain gene are a cause of autism

Spontaneous mutations in the brain gene TBR1 disrupt the function of the encoded protein in children with severe autism. In addition, there is a direct link between TBR1 and FOXP2, a well-known language-related protein. These ...

Genetics

New genetic clues emerge on origin of Hirschsprung's disease

Genetic studies in humans, zebrafish and mice have revealed how two different types of genetic variations team up to cause a rare condition called Hirschsprung's disease. The findings add to an increasingly clear picture ...

Medical research

Telomere length varies across human tissue types

Telomere length has long been considered an important biomarker in human aging and disease, but most studies on the relationship between telomere length and health have looked only in a single tissue type: blood. This limitation ...

Diseases, Conditions, Syndromes

New link between malaria parasites and sickle hemoglobin identified

Some malaria parasites in sub-Saharan Africa have genetic variants that allow them to infect those with sickle hemoglobin, which is normally thought to give strong protection against the disease. The parasites may have adapted ...

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