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American Journal of Human Genetics

Genetic error linked to rare disease that causes chronic respiratory infections

(Medical Xpress)—Scanning the DNA of two people with a rare disease has led scientists to identify the precise genetic error responsible for their disorder, primary ciliary dyskinesia.

Genetics Oct 16, 2012 | 5 / 5 (1) | 0 |

Genome sequencing finds unknown cause of epilepsy

Only 10 years ago, deciphering the genetic information from one individual in a matter of weeks to find a certain disease-causing genetic mutation would have been written off as science fiction.

Genetics Feb 23, 2012 | 4.6 / 5 (7) | 0 |

Gene regulator in brain's executive hub tracked across lifespan

For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain's executive hub. Among key findings ...

Autism spectrum disorders Feb 02, 2012 | 5 / 5 (3) | 1 |

A cautionary tale on genome-sequencing diagnostics for rare diseases

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing ...

Genetics May 10, 2013 | 3 / 5 (1) | 0 |

Mystery disease solved by gene experts

(Medical Xpress)—A global team of researchers has identified the gene behind an Australian toddler's paediatric brain disorder in a discovery that is paving the way for the diagnosis and treatment of other ...

Genetics May 03, 2013 | 4.5 / 5 (2) | 1 |

Research identifies gene mutations associated with nearsightedness

People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine ...

Genetics May 02, 2013 | 5 / 5 (2) | 2 |

Gene variant appears to predict weight loss after gastric bypass

Massachusetts General Hospital (MGH) researchers have identified a gene variant that helps predict how much weight an individual will lose after gastric bypass surgery, a finding with the potential both to ...

Genetics May 02, 2013 | not rated yet | 0 |

Evolving genes lead to evolving genes

Researchers have designed a method that can universally test for evolutionary adaption, or positive (Darwinian) selection, in any chosen set of genes, using re-sequencing data such as that generated by the 1000 Genomes Project. ...

Genetics Apr 18, 2013 | 5 / 5 (1) | 0 |

Scientists find ethnicity linked to antibodies

(Medical Xpress)—Cracking the DNA code for a complex region of the human genome has helped 14 North American scientists, including five at Simon Fraser University, chart new territory in immunity research.

Genetics Apr 17, 2013 | 5 / 5 (2) | 0 |

Breakthrough in deafness and ovarian failure syndrome

(Medical Xpress)—Researchers from Manchester Biomedical Research Centre at Saint Mary's Hospital and the University of Manchester have identified a new gene, which increases our understanding of the rare ...

Genetics Mar 29, 2013 | not rated yet | 0 |

Persistence pays off in solving hemophilia mystery, showing curiosity drives discovery

An Australian researcher has found the third and final missing piece in the genetic puzzle of an unusual form of hemophilia, more than 20 year after he discovered the first two pieces.

Genetics Mar 07, 2013 | 5 / 5 (1) | 0 |

Scientists identify new therapeutic target for coronary heart disease

Scientists investigating how certain genes affect an individual's risk of developing coronary heart disease have identified a new therapeutic target, according to research published today in The American Journal of Human Ge ...

Cardiology Feb 14, 2013 | 4 / 5 (1) | 0 |

Study points to a safer, better test for chromosomal defects in the fetus

A noninvasive, sequencing-based approach for detecting chromosomal abnormalities in the developing fetus is safer and more informative in some cases than traditional methods, according to a study published ...

Genetics Jan 10, 2013 | 5 / 5 (1) | 0 |

Genetic sequencing breakthrough to aid treatment for congenital hyperinsulinism

Congenital hyperinsulinism is a genetic condition where a baby's pancreas secretes too much insulin. It affects approximately one in 50,000 live births and in severe cases requires the surgical removal of all or part of the ...

Genetics Dec 27, 2012 | not rated yet | 0 |

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