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Genetics and Birth Defects

Genetic Defect Links Rare Infections to Autoimmune Diseases

A team led by researchers at The Rockefeller University and the Icahn School of Medicine at Mount Sinai has explained the function ...

New diagnostic test helps UCLA doctors pinpoint mutations that cause rarest genetic diseases

Analysis scans all genes simultaneously to diagnose mystery conditions and guide couples’ family planning ...

Study: Most respond well to genetic testing results

By Jim Dryden - People at high risk for psychological distress respond positively to receiving results of personalized genetic testing, according to new research at Washington University School of Medicine in St. Louis. ... Full story

How a molecular Superman protects the genome from damage

Scientists find a new role for RNAi protein Dicer in preventing collisions during DNA replication ... Full story

Diagnostic tool for leading viral cause of birth defects

Researchers from Cardiff and Swansea Universities have been awarded a grant of more than £323k to develop a new, non-invasive, low-cost, and easy to use point of care device to diagnose Human Cytomegalovirus (HCMV). ... Full story

Primitive microbes stole bacterial genes on a surprising scale

A University of Otago researcher is part of an international team that has discovered that horizontal gene transfer (HGT) played a surprisingly large role in the evolution of primitive microbes known as archaea. ... Full story

Start signal for transcription of stressed genes identified

(Vienna ) What happens when a cell is stressed? In their latest study, Christian Seiser and his team at the Max F. Perutz Laboratories (MFPL) of the University of Vienna and the Medical University of Vienna addressed this question. They identified which genes of the cell are activated under stress, showed that more than half of these genes share the same hallmark and described the molecular mechanism through which it starts the transcription of stress-activated genes. Their results could help to develop therapeutics to treat stress-related disease and have been published in the renowned journal Genome Research. ... Full story

Defective gene renders diarrhoea vaccine ineffective

Every year rotavirus causes half a million diarrhoea-related deaths amongst children in developing countries. Existing vaccines provide poor protection. The reason could be a widespread genetic resistance amongst children, according to virologists at Linköping University. ... Full story

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