February 2013

1 February 2013

Top stories this month

A study demonstrating that individuals who ‘anonymously’ donate their genome sequences for research can potentially be identified by cross-referencing their sequence data with information in online genetic genealogy databases has generated a great deal of discussion about genomic privacy.

Opinion: Is the 100,000 Genomes Project a worthwhile endeavour?

PHG Foundation Director Hilary Burton and public health expert Mark Kroese discuss the ongoing debate around the scientific and clinical utility of the government’s recently announced 100,000 Genomes Project.

PHG Foundation publications

We publish a new report on the application of public health genomics to the prevention and management of obesity in the UK, and as part of our COGS project our multi-disciplinary team co-author a review in Genetics in Medicine on the implications of incorporating genomics into cancer screening, accompanied by a commentary and overview of the topic by the CDC’s Muin Khoury and colleagues.

Policy and regulation

Following a recent consultation the government has decided that regulators the HFEA and HTA will not be axed, but will be rigorously reviewed to improve their efficiency. Another government review will consider potentially radical changes to the UK Research Councils, including whether they could be merged.

Research funding

The Japanese government invests heavily into stem cell research, while proposed cuts to the European research budget cause concern amongst leading academics.

Genes, disease and medicine

A new study suggests how epigenetic changes mediate the influence of environmental triggers for rheumatoid arthritis, and a new Tumour Profiling Unit will be established in London to help develop personalised, genome-based cancer treatments. A major meta-analysis of previous studies implicates 24 new genes in susceptibility to short-sightedness, whilst a single gene variant could underlie the apparent greater severity of H1N1 symptoms in Chinese populations.

Molecular genetics

The first compelling evidence that a four-stranded form of DNA exists in living human cells is published, and comparative analysis between genomes of younger and older individuals suggests that particular copy number variations influence lifespan.

New reviews and commentaries

Other news