Genomes of an entire family sequenced in world first

www.guardian.co.uk - Sequencing the genomes of every family member gives researchers a powerful new tool for tracking down the defective genes that cause inherited diseasesAn American family has become the first to have the entire genome of each member mapped to identify the causes of rare diseases that affect the children.The family of four is unusual because the parents are healthy but both son and daughter have two rare inherited medical conditions that cause facial and limb malformations and lung problems.Mutations in "recessive" genes are responsible for these conditions, meaning that in each case the children must have inherited a defective copy from both their mother and their father to get the disease.One of the conditions, Miller's syndrome, causes facial and limb abnormalities and affects only around one in a million people. Only a few families in the world have been formally diagnosed with the condition.The second disease, called primary ciliary dyskinesia, makes the hair-like structures that sweep mucus from the lungs and airways stop working, and affects around one in 10,000 people globally. The chances of one person having both conditions are less than one in a billion.Scientists at the Institute for Systems Biology in Seattle sequenced the entire genomes of all four family members and used the information to pinpoint four genes that might be responsible for the diseases. Mutations in two of the genes were later confirmed to be the cause of the diseases.The breakthrough, reported in the journal Science, gives researchers a powerful new tool to track down quickly the defective genes behind almost any disease that is caused to a significant extent by genetic glitches."It remains to be seen how far we can push it, but I really don't see any limitation to this. If we look at more and larger families we should be able to home in on the key genes linked to far more complex conditions, such as neurodegenerative diseases and autoimmune diseases," said David Galas, professor of genetics and a senior author on the study.With many diseases, identifying the defective gene can help doctors make a diagnosis and arrange for appropriate counselling for the patient and other family members."The big impact is going to be helping us understand diseases at the molecular level, but that is a longer play," Galas added.The researchers also report the first measurement of how many new, spontaneous mutations parents pass on to their children. They identified 30 from each parent, meaning that each child inherited 60 new mutations in total. Estimates based on comparisons between human and chimp genomes have previous led scientists to think the figure was higher, at around 75.Writing in the journal, the scientists explain that in future, everyone is likely to have a full genome sequence in their medical records, making such familial genetic comparisons easier.Many patients who are referred to a clinical geneticist by their doctor are not diagnosed because scientists only know the genes involved in a fraction of the medical conditions they see."What this group has shown is that with one family, you can get almost directly to the important mutation itself. It's a big deal, because if we can collect families affected by a condition, we might be able to get much more rapidly towards understanding their genetic causes," said Matthew Hurles, a geneticist at the Wellcome Trust Sanger Institute in Cambridge, UK.In a separate study, a researcher at Baylor College of Medicine in Houston, Texas, helped discover genetic mutations that cause his own rare medical condition. James Lupski inherited Charcot-Marie-Tooth syndrome, a rare disorder that leads to a loss of sensitivity and muscle in the hands and feet. Neither of his parents have the disease, but three of his siblings do.Writing in The New England Journal of Medicine, Lupski and his colleagues describe how they compared his genome with those of his other family members and identified two mutant genes that cause the syndrome."This is the first time we have tried to identify a disease gene in this way," said Lupski. "We can [now] start to use this technology to interpret the clinical information in the context of the sequence, of the hand of cards you have been dealt."GeneticsMedical researchHealthHealth & wellbeingIan Sampleguardian.co.uk © Guardian News & Media Limited 2010 | Use of this content is subject to our Terms & Conditions | More Feeds More... (Medical research)

UN brings in top scientists to review IPCC report on Himalayan glaciers

www.guardian.co.uk - Moves aims to restore public confidence in science of global warming after mistake over melting rates of glaciersThe UN called in the world's top scientists today to review a report by its climate body, four months after public confidence in the science of global warming was shaken by the discovery of a mistake about the melting rates of Himalayan glaciers.In an announcement at the UN in New York Ban Ki-moon, the UN secretary general, and Rajendra Pachauri, the much-criticised head of the Intergovernmental Panel on Climate Change, said the InterAcademy Council, which represents 15 national academies of science, would conduct the independent review.The announcement follows months of controversy which, while not altering the scientific consensus on climate change, has given fresh ammunition to opponents of action on global warming.Pachauri has faced calls for his resignation, a controversy he acknowledged obliquely today. "We have received some criticism. We are receptive and sensitive to that and we are doing something about it," he said.The review, which is to complete its work by August, will not undertake a dissection of the 2007 report, which has been pored over by climate sceptics, or re-examine the scientific consensus that human activity is causing climate change, said Robert Dijksgraaf, the head of the InterAcademy Council."It will definitely not go over vast amounts of data," he told reporters. "Our goal will be to assure nations around the world that they will receive sound scientific advice on climate science."Instead, he said it would focus on putting in place better quality control procedures for the next report, which is due in 2014.These would include guidelines for dealing with material that has not undergone peer review such as the item on Himalayan glaciers.One focus of the review would be the role played by Pachauri who has been criticised for his handling of the error when it first came to light.Djiksgraaf also said the panel, likely to be made up of 10 experts, would also look at procedures for making corrections in a timely and transparent manner.The report has been pored over by climate sceptics for errors since last November when it emerged that the IPCC had stated, wrongly, that Himalayan glaciers could melt by 2035. As Pachauri and Ban noted today, the solid body of the 3,000 page report remained unchallenged.The discovery of the error goes to the core of criticism of Pachauri whose first response to questions about the accuracy of the IPCC's prediction on the melting of the Himalayan glaciers was to dismiss it as "voodoo science".Pachauri had also rankled critics by refusing to apologise for the mistakes.But a spokesman for Pachauri today said the IPCC had initiated the independent review, and had pressed the UN to call in the scientists.In his brief comments, Pachauri said the work of the IPCC, which shared a Nobel prize with Al Gore in 2007, remained the gold standard of climate science. "We believe the conclusions of that report are really beyond any reasonable doubt," Pachauri said.Environmental and science organisations supported the UN's decision."This is the right move," said Peter Frumhoff, the science director for the Union of Concerned Scientist and a lead author on the IPCC report."If this independent review is carried out with rigour and transparency, it will help strengthen the IPCC's commitment to robust scientific assessments and restore public confidence that has been shaken by an aggressive campaign to sow confusion about climate science."Intergovernmental Panel on Climate Change (IPCC)Climate changeRajendra PachauriClimate changeUnited NationsSuzanne Goldenbergguardian.co.uk © Guardian News & Media Limited 2010 | Use of this content is subject to our Terms & Conditions | More Feeds More... (Climate)

Save the planet. But maybe not right now | Martin Wainwright

www.guardian.co.uk - Doomsaying precludes the possibility of ingenious solutions - and indicates a morbid vanity that we must be the savioursIsn't it welcome to have Ian McEwan as an advocate for a little optimism in the climate change debate? His hope, expressed in his new novel Solar, that humanity will prove ingenious enough to solve the problem through the skill of coming generations is a welcome change from those who portray our descendants as helpless victims of our "excess".Their injunctions to "save the world for our children and grandchildren" fly in the face of history, which repeatedly shows how progress - from the wheel to the internet - transforms the world picture as time marches on. The doom brigade has its moments, such as the collapse of the classical world in Europe, the Black Death and the first world war, but they are exceptions to learn from. And we have learned.Not to the extent of mastering clairvoyancy, however. Like miserabilism, a constant in human behaviour is the inability of Today to successfully imagine Tomorrow. The archive of prophecy and science fiction contains some good guesses, but in general the seers get it wrong. Which of my grandparents, addressing me in the 1950s, could possibly have foreseen today's IT? Which of my grandparents' grandparents had a notion of the bicycle or national parks?This is true of scientists as much as of the more general type of wise person. Science is too often mistakenly treated in the way that history was by those 19th-century Germans who thought that one day the whole truth could be set down. Certainty is not absolute. Scientists are ambushed by novelty - see Galileo, Pasteur, Darwin, Einstein - as often as the rest of us.None of this is to argue against the risks of global warming or prudence in facing them. It is to warn against vanity, in the form of the exaggerated belief that it is all down to our generation: here, now, hurry, rush. It's also an appeal against pessimism, because of the limitations glumness places on the very potential which, odds-on, will prove the planet's salvation.A writer in the Economist's most recent green supplement made this point neatly by questioning assumptions (rather reminiscent of Catholic dogma in Galileo's day) that spending the world's limited resources on Tomorrow rather than Today is necessarily morally right. The Economist's writer said: "Since future generations will probably be much richer than we are, it makes no more sense for us to sacrifice our wellbeing for them than it would to expect 18th-century peasants to go without gruel so we can buy more computers."That is the sort of sally that deserves a wide hearing. If we stall Today's wonderful spread of international knowledge, travel and general prosperity, we risk a future like Gray's Elegy Written in a Country Churchyard, where unknown Miltons remain mute and inglorious and village Darwins never get further than their shacks.Climate changeClimate change scepticismClimate changeIan McEwanMartin Wainwrightguardian.co.uk © Guardian News & Media Limited 2010 | Use of this content is subject to our Terms & Conditions | More Feeds More... (Climate)