September 2012

1 September 2012

Top stories this month

The most complete picture yet of the functional architecture of the human genome emerges from publication of ENCODE consortium’s analysis, dispelling the notion that any significant proportion of our DNA is ‘junk’. In the US the Court of Appeals upholds the validity of Myriad’s patents relating to breast cancer genes BRCA1 and BRCA2.

Opinion: Clinical sequence data

PHG Foundation’s Senior Policy Advisor Alison Hall asks what patients’ rights are when it comes to accessing the raw genome sequence data generated in the course of their clinical care.

Genes and disease

New studies identify biomarkers with predictive value for risk of type 2 diabetes and autism, and find the rise in new mutations in offspring of older parents is mostly influenced by paternal age. A contest to interpret the genomes of three child patients with unknown conditions attracts entries from thirty teams across the world.

Research methods and standards

New initiatives aim to verify the results of high-profile research and to enable health records of NHS patients to be used in medical studies. Research indicates that Guthrie cards could provide a useful resource for unravelling the influence of epigenetics on health outcomes.

Assisted reproduction

Previously-frozen embryos may have better outcomes than ‘fresh’ ones in IVF treatment. The European Court of Human Rights finds that Italy’s ban on embryo screening during IVF violates a couple’s rights, and in the UK the HFEA launches its public consultation on the ethics of allowing the use of donor mitochondrial DNA.

Genetic research funding

A centre for genetics research based at the University of Edinburgh secures £60 million funding over the next five years. In the US the NIH seeks proposals for studies to investigate the merits of newborn sequencing, while budget cuts at the National Library of Medicine threaten the futures of five online biological resources.

New reviews and commentaries

Other news