Another week, another new Audi. Two new Audis, in fact. The German car maker has announced a couple more additions to its Q line up of SUVs. The Q4 is a coupe-SUV hybrid that will go up against the BMW X4 and Mercedes GLC Coupe. As its name suggests, it’ll be positioned between the compact Q3 and bigger Q5. At the other end of the scale is the Q8, which will go head to head against the Range Rover. It’s lower and sleeker than the Q7 Audi is also producing. In concept form, it sat only four people, although it seems likely the production version will be a five seater. There’s a 630 litre boot as well. Eagle eyed Audi followers will notice the only SUV slots left to fill are the Q1 and Q6. Watch this space...
In the second X-Men movie, Brian Cox played a baddie intent on wiping out all mutants on Earth. On Monday, he learned he has plenty of mutations when he launched the genomic sequencing unit at Dundee University. His own genetic make-up, or genome, was analysed with the help of a special instrument. What scientists found by looking in minute detail at his blood sample was that Brian’s genome has more than four million variants or mutations compared to a reference genome. About 12,000 of these were causing some sort of change to the proteins his genes make. The actor, who is rector of the university, has diabetes and has long been a supporter of research into the condition. His genome was studied by Dr Christian Cole, who looked specifically for signs in 11 genes known to be associated with diabetes. He found an increased risk in five of them. He also found Brian has an increased risk of developing eczema. Asked about the results, Brian said: “I will have to sit down and study it. My diabetes, interestingly enough, as far as I can tell, is much more conditional than genetic. There are genetic elements but it is much more about conditions, which is true for a lot of diabetics.” Brian does not have eczema, but his wife’s sister and his son have it, a sign of the complexity of how we are all affected by our genetic heritage. “I imagine that every person who comes along, their story is telling a new story,” he said. The growth in life sciences since his involvement with the university had been phenomenal, he added. The sequencing instrument has been acquired by the university’s centre for dermatology and genetic medicine and will help track down faulty genes and try to develop therapies for incurable skin conditions. It will also be used in other applications for colleagues at the university and beyond.
Blood samples donated by thousands of people in Tayside have helped Dundee University researchers to uncover new genetic evidence about how a key diabetes drug works. The scientists were part of a team looking at metformin, which has been in use for over 50 years and helps protect people with type two diabetes against heart disease and eye and kidney problems. Despite being a commonly-prescribed drug for such a long time, a lot about how metformin actually works is still unknown. A team led by Dr Ewan Pearson and Professor Colin Palmer, based at the university's biomedical research institute, used anonymous data from a clinical information system of patients with diabetes, linked to donated blood samples from 20,000 people in Tayside. They identified a gene called ATM that alters how patients respond to the drug findings that have now been replicated by colleagues at Oxford University. Dr Pearson said, "In one of the largest studies of its kind, we have used the genetics of drug response, otherwise known as pharmacogenetics, to investigate how metformin works. "We were expecting to find genes involved in blood sugar regulation so the finding that ATM is involved in metformin response was totally unexpected. "Although ATM has been widely studied by cancer scientists, no one previously thought it had a role in how this commonly used diabetes drug worked. "Our finding therefore draws together mechanisms that protect against cancer and lower blood sugar, suggesting a new area for diabetes drug development." Professor Palmer added, "This is an important development in defining how individuals may respond differently to diabetes drugs, but further work is required before we have enough information to be able to reliably use genetic testing in the clinic to guide treatment of common forms of type two diabetes." Diabetes UK has now awarded Dr Pearson further funding to continue his research using new genetic techniques on 8000 people with type two diabetes. Dr Iain Frame, the charity's research director, said, "This study is a great example of how research can produce unexpectedly exciting results. "The benefits for people with type two diabetes may not be immediate but any research that increases our knowledge of how effectively drugs work in different individuals is hugely important. "This is why Diabetes UK is funding Dr Pearson to continue this important line of research and this is likely to have significant impact in the future for people with type two diabetes and the costs involved to the NHS in treating it." The research is published in the journal Nature Genetics. Photo courtesy of Wikimedia Commons.
The parents of a Perthshire toddler who died after his family waited almost 50 minutes for an ambulance are to visit a consultant to establish whether they passed on a genetic condition that could have led to his death. Martin (32) and Lisa Gray (33), of Crieff, will visit a consultant at Perth Royal Infirmary (PRI) later this month to clarify if they passed on a gene mutation to three-year-old Martyn. If the results prove positive the couple's other three children, Chloe (13), Luke (10) and Caleb (7), will then undergo tests. Martyn tragically passed away on April 30 last year after taking ill at his family's previous home on the outskirts of Crieff. At the time paramedics were on a break and this resulted in an ambulance having to make the 25-mile journey from Stirling. The driver had difficulty finding the Grays' home and the couple had to give him directions over the phone. Mr Gray explained why he and his wife are to visit the consultant. ''We will be going to see a consultant at PRI to discuss this possibility of the gene matter,'' he told The Courier. ''A sample of Martyn's brain tissue was kept, so that will be looked into. Seemingly Martyn's seizure had something to do with genetics and gene changes, so this will establish whether he had gone through a change. ''Or it will show that this is something that neither Lisa nor me knew about. We will see if one of us passed this on to Martyn. If that is the case, then the other kids will be tested.'' Mr Gray also expressed his pleasure at the change in conditions for ambulance crews which means that control room operators can now contact crews during their breaks. ''We had met with Nicola Sturgeon, the health secretary, regarding this and she held up her end of the bargain as far as we were concerned,'' he added. The anniversary of Martyn's death is approaching and part of the healing process has been helped by the family moving house to Crieff. ''My wife hardly slept in our previous house she was lucky if she got two hours a night,'' Mr Gray said. ''We moved in October and it has made a big difference to us.''
Scientists from St Andrews and Edinburgh universities are leading research into a new genetic test which could help in the fight against prostate cancer. Men thought to have prostate cancer could receive a more accurate diagnosis thanks to a simple genetic test, research has shown. The procedure will help identify the cancer if it is missed in routine check-ups, and will save patients undergoing repeated invasive investigations which carry a risk of infection. Scientists who led the research say the improved test works by recognising the “halo” of cells which form around a prostate tumour. These cells, which can appear healthy under a microscope, contain silenced genes which turn off the cell’s natural protection against tumour growth. Researchers say by identifying genetic changes in these halo cells they can tell that a patient is more likely to have a tumour, even if their tissue sample shows no cancerous cells. More than one in 10 men tested for prostate cancer receives an inconclusive result and has to have a second biopsy which can be painful and carries a risk of serious infection. This is often because the first tissue sample taken is clear, while their blood test reveals high levels of the PSA protein prostate-specific antigen which is associated with prostate cancer. The team examined prostate tissue from 500 men who had undergone a prostate check-up and received inconclusive results. The new test correctly identified hidden tumours in seven out of 10 cases without the need for a second biopsy. The test was also 90% effective in showing which patients did not have prostate cancer. It provided peace of mind to those without the disease, and prevented two-thirds of men from undergoing a second, unnecessary biopsy. Dr Grant Stewart, clinical lecturer in urology at Edinburgh University, who jointly led the study said: “Prostate cancer is the most common cancer for men in the UK although it can be challenging to diagnose as these tumours are not easily seen on scans. “Our work shows that there is a more precise way of detecting these cancers. “This new test helps us to see the ripple effect of a tumour so that even if the cells we examine aren’t cancerous, we can tell there might be a tumour nearby.” The test is now available in the US. The team hopes to work with the NHS to introduce it into routine prostate checks in the UK.
Scientists at Dundee University have helped uncover a genetic defect that can triple the risk of a child developing a life-threatening peanut allergy. Peanut allergy affects 1-2% of all children, but rates of the condition have increased dramatically over the past 30 years although no one knows why. Now research led by scientists in Dundee has identified the key role the gene Filaggrin can have in causing the condition. Filaggrin has previously been shown by the team to be a significant factor in causing eczema and asthma, conditions often linked to peanut allergy. "It was a logical next step to investigate whether Filaggrin may also be a cause of peanut allergy, since a child may develop all three of these diseases together," said Dr Sara Brown, Wellcome Trust intermediate clinical fellow in the division of molecular medicine at Dundee. "Allergic conditions often run in families, which tells us that inherited genetic factors are important. In addition to that, changes in the environment and our exposure to peanuts are thought to have been responsible for the recent increase in peanut allergy seen in the western world in particular. "Now for the first time we have a genetic change that can be firmly linked to peanut allergy." Filaggrin gene codes are for a protein that helps to make the skin a barrier against irritants and allergies. Any changes to the gene reduce the skin's effectiveness as a barrier and result in more substances entering the body, which can then trigger allergic reactions. The study has found that one in five peanut allergy sufferers have a Filaggrin defect and that those with a defect are three times as likely to suffer a peanut allergy than those with a normal gene. "We knew that people with a Filaggrin defect were likely to suffer from eczema, and that many of those people also had peanut allergy," said Professor Irwin McLean, who is also based at Dundee. "What we have now shown is that the Filaggrin defect is there for people who have peanut allergy but who don't have eczema, which shows a clear link between Filaggrin and peanut allergy. "The Filaggrin defect is not the cause of peanut allergy but we have established it as a factor in many cases. We don't yet know enough about the causes of peanut allergy but this is an important step forward." The findings are published today in theJournal of Allergy and Clinical Immunology. Professor McLean said the Filaggrin findings suggest peanut allergy may be caused by substances entering the body through the skin though it could also have an effect in the gastro-intestinal area. He also stressed that, as Filaggrin defects were found in one in five peanut allergy cases, more research must be carried out into the genetic risk factors for the condition. Photo by Flickr user EuroMagic.
Cancer Research UK has hired Dundee games developer Guerilla Tea to build an app that could put game technology to lifesaving use. The aim of the GeneGame is to help Cancer Research UK analyse the massive amounts of data created by increasingly sophisticated methods of targeting cancer. Scientists are investigating new ways to treat patients based on their genetic fingerprint but this research produces huge amounts of data, much of which has to be analysed by the human eye. It is hoped the game, to be launched later this year, will speed up the analysis process by getting the public involved. Amy Carton, citizen science lead for Cancer Research UK, said: “We were very impressed by the initial format produced by Guerilla Tea and we’re excited about seeing the final result. “We’re right at the start of a world-first initiative that will result in a game that we hope hundreds of thousands of people across the globe will want to play over and over again and at the same time, generate robust scientific data analysis. “Combining complicated cancer research data and gaming technology in this way has never been done before. It’s certainly no mean feat but we’re working with the best scientific and technology brains in the business. “We’re ready for the challenge and believe the results will have global impact and speed up research.” Mark Hastings, chief executive of Guerilla Tea, said: “We’re absolutely delighted to have been selected by Cancer Research UK for this project. “We’ve always believed games technology has the potential to provide huge benefits to other sectors and this project will be a wonderful example of that. “We’re very excited to get started and through our work, look forward to helping speed up discoveries that one day might lead to new cancer treatments,” he added. GeneGame follows up on the charity’s Cell Slider, launched in October 2012, which allows the public to classify archived breast cancer samples, helping Cancer Research UK scientists to better understand breast cancer risk and response to treatment.
Actress Angelina Jolie's aunt has died from breast cancer, less than two weeks after the star had a double mastectomy to avoid the disease. Debbie Martin, 61, died in a San Diego, California-area hospital, her husband Ron said. Mrs Martin was the younger sister of Jolie's mother Marcheline Bertrand, whose own death from cancer in 2007 inspired the surgery that Jolie described in a May 14 New York Times article. According to her husband, Mrs Martin had the same defective BRCA1 gene as Jolie, but did not know it until after her 2004 cancer diagnosis. He said had his wife known in advance of her genetic risk, "she would have done exactly what Angelina did". Mrs Martin's death was first reported by E! News.
The Scottish Government's own efficiency has been called into question over the handling of the new £45million Beef Efficiency Scheme (BES). An estimated 180,000 beef cows from 2000 Scottish farmers have been enrolled in the new five-year scheme which aims to improve the efficiency and quality of the beef herd and help producers increase the genetic value of their stock. But months after signing up for the scheme, farmers are still waiting to be supplied with special tags to meet the rules which call for 'tissue tagging' of 20% of cattle. And now NFU Scotland's livestock chairman Charlie Adam says farmers' confidence in the scheme is being affected and has called for the rules to be adjusted. The union has also urged the Scottish Government to update all scheme applicants on progress with BES and let them know when the necessary tags will arrive. “If tag delays cannot be resolved in the immediate future, then the Scottish Government should recognise the problem and make the tissue tagging element voluntary for 2016. This will allow those who can take samples from the animals that they still own to do so," said Mr Adam. “Applicants to this important scheme, worth £45 million to the industry, have every right to know now, and in detail, what they are expected to do to fulfil their BES obligations and Scottish Government must get back on the front foot in delivering the scheme.” Mr Adam added that it was frustrating for the farmers who have already housed and handled their cattle for the winter as many of those animals were by now located in overwintering accommodation that can be some distance from home farms. Shadow Rural Economy secretary, Peter Chapman MSP claimed it was impossible for farmers to sell store cattle in the autumn sales until they were told which animals need tagged and were sent the tags to do the job. He added: "This will create huge cash flow and logistic problems for farmers who normally sell calves at this time – this is the SNP letting farmers down yet again.” A Scottish Government spokesman said work was under way to rectify the problem and a timetable was expected by the end of the week. He added: "It is not necessary for farmers to hold off from selling their animals. "We will ensure that the sampling regime accommodates those farmers who have sold their calves and there will be no penalties for those whoo have. It may mean that some farmers will have a higher rate of sampling next year." firstname.lastname@example.org
A new genetic test could spare thousands of women with breast cancer from chemotherapy. The Oncotype DX test involves the examination of genes taken from a sample of a tumour removed during surgery. It can help doctors decide whether chemotherapy would actually benefit patients and the risk of cancer returning. The test has been approved for use by the National Institute for Health and Clinical Excellence in England (NICE) and is now being considered for use in Scotland. A spokesperson for the Scottish Government said: “Although NICE diagnostic advice does not apply in Scotland, it is a matter for individual clinicians to exercise clinical judgment, and clinicians can offer this test if they deem it to be the most appropriate treatment. “We have asked them to consider this advice and make recommendations on the most appropriate way forward for Scotland.” The genetic test could benefit those with early-stage breast cancer facing the intensive treatment, whose side effects include nausea, vomiting, insomnia, hair loss and fatigue. Studies have suggested that half of women with the most common form of early breast cancer could be spared chemotherapy if they have the test.