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Strongest single gene conclusively implicated in schizophrenia

An international consortium of researchers, including Prof Dave Curtis from UCL Genetics Institute, has discovered conclusive evidence for the involvement of a gene called SETD1A in schizophrenia. Damaging changes to this gene, which occur rarely, increase the risk of schizophrenia 35-fold and also increase risk for a wide range of neurodevelopmental disorders.

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Nick Luscombe receives MRC Grant as part of the Medical Bioinformatics Initiative

Medical informatics is about to come of age. What has been an emerging trickle of funding is starting to amount to a substantial flow. In the UK alone, the Medical Research Council (MRC) along with other research councils, charities, and health departments are investing in big data to the tune of £90 million over a 5-year period.

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Genomics—from the lab to clinical practice - BMJ Editor's Choice 30 Nov 2013

There are about 20 000 genes in the human genome. Until recently, clinicians seeking to diagnose a genetic condition have had to select single genes to be sequenced. The process is slow, expensive, and often unsuccessful. Now that the cost of DNA sequencing has fallen so dramatically, it’s cheaper and easier to sequence the entire genome, with huge potential benefit to our understanding of disease. But this bounty brings with it clinical and ethical questions, as Caroline Wright and colleagues explain (full article). Who should be tested? How much of the genome should be sequenced? What should patients be told? What do we do about incidental findings? And how should an individual’s genomic data be stored?  Uppermost in clinicians’ minds may be the question of how best to interpret the information that is now so abundantly available. It may be easy enough to identify a gene that explains a patient’s clinical presentation, such as the genetic variant for Charcot- Marie-Tooth disease. But because of incomplete or age dependent penetrance, finding a genetic variant that is known to cause a disease doesn’t mean the person has or will develop that disease. Because we still have limited understanding of many genetic variants, we should beware of overinterpreting the data, say Wright and colleagues. “Our ability to generate data now far outstrips our ability to interpret them.” Sequencing the entire genome will inevitably reveal unexpected findings, some of which will cause confusion and distress. In a linked commentary, Alastair Kent discusses the impact on patients (full article). The new ease of genomic testing is mainly good news, he says. But the potential for unexpected findings makes it hard for patients to specify in advance how they would like these to be dealt with. “Do I want to know if my genome reveals that I am likely to develop a serious condition which may or may not be related to the one for which I had DNA analysis in the first place? Is there a difference between diseases that have treatments and those that do not?” He would like his doctor to discuss these things before proceeding. But what levels of consent need to be obtained ahead of time? Wright and colleagues warn that genomic sequencing too easily becomes screening by another name. As with all screening, we will need to avoid overstating the benefits and underestimating the harms. And each combination of genetic variant and associated disease will need to beevaluated separately in terms of whether the disease is treatable and at what risk and cost. To stop us straying into untargeted and unmanageable genomic screening, the authors suggest a clinically targeted approach. This would mean partitioning the data and only interrogating those parts that relate to the presenting clinical problem.

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UCL's Prof Hugh Gurling dies aged 63

It is with great sadness that I want to inform you of the sudden death of Prof Hugh Gurling. Hugh has been a personal friend and colleague for many years, and has been an Associate Member of UGI and served on its Advisory Board since its inception. Prof Dave Curtis has written an obituary for Hugh which can be accessed here. He will be sorely missed.

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BHF Grant awarded to Dr Ruth Lovering

Dr Ruth Lovering, Professor Philippa Talmud, Professor Steve Humphries, Professor Manuel Mayr (King's College) and Dr Rolf Apweiler (EBI) have been awarded over £500,000 funding from the British Heart Foundation to improve the annotation of genes associated with cardiovascular diseases and processes. The funding will support two post-doctoral research associates for 5 years in the Institute of Cardiovascular Science. The team will create protein and microRNA annotations using Gene Ontology as well as capture protein-protein interactions. The project is dependent on established and new collaborations with the European Bioinformatics Institute and the Sanger Institute (Hinxton).

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Nick Luscombe publishes in Cell

Direct competition between hnRNP C and U2AF65 protects the transcriptome from the uncontrolled exonization of Alu elements.

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UGI's Prof Francois Balloux co-authors paper on genetics and climate reconstructions to track the global spread of modern humans out of Africa

Research indicates the out-of-Africa spread of humans was dictated by the appearance of favourable climatic windows. By integrating genetics with high resolution historical climate reconstructions, scientists have been able to predict the timing and routes taken by modern humans during their expansion out of Africa. Their research reveals that the spread of humans out of Africa was dictated by climate, with their entry into Europe possibly delayed by competition with Neanderthals.  

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