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Genetics and Birth Defects

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 ...

Scientists Identify Mutation Associated with Cleft Palate in Humans and Dogs

Findings Reported at ASHG 2014 Annual Meeting ...

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

Guideline Offers Direction in Genetic Testing for Certain Types of Muscular Dystrophy

MINNEAPOLIS – A new guideline from the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) recommends guidance on how doctors should evaluate the full picture—from symptoms, family history and ethnicity to a physical exam and certain lab test results—in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy. The guideline is published in the October 14, 2014, print issue of Neurology®, the medical journal of the American Academy of Neurology. ... Full story

Precise Control Over Genes Results from Game-Changing Research

UCSF Invention Greatly Amplifies Power of CRISPR Technology ... Full story

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