Cardiology

Defective cilia linked to heart valve birth defects

Bicuspid aortic valve (BAV) is the most common heart valve birth defect and one of the most common birth defects of any type, affecting around 70 million people worldwide. A healthy aortic valve has three leaflets; in BAV ...

Genetics

Undiagnosed diseases program finds novel genetic variant

The Undiagnosed Diseases Program at the University of Alabama at Birmingham recently found a previously unknown genetic variant that is believed to account for a severe movement disorder in a young woman. In a case study ...

Oncology & Cancer

Cancer susceptibility genes

Genome-wide association studies (GWASs) have identified hundreds of genetic "risk" variants for human cancers. The vast majority likely contribute to cancer development by regulating the expression of other genes, but these ...

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