Doctors who sequence a patients full set of genes for any medical reason should look for two dozen unrelated genetic conditions and tell the individual if they find any of them lurking in the DNA, according to a long-awaited report led by a medical geneticist from Boston. Released Thursday morning, the recommendation by an organization of genetics specialists is the first real effort to delineate how broadly testing laboratories should look for additional potential genetic problems, and the specific information that doctors should tell patients. Should patients whose genome is sequenced to help diagnose a cardiac condition be tested for a gene that predisposes them to later develop breast cancer, or one that will cause them to have a life-threatening reaction to anesthesia? Yes, the new guidelines suggest, even if that person is a child. The guidelines were issued as rapid technology advances have made whole-genome sequencing cheaper and fasterenough so that genetics specialists predict that within a few years, it will be a routine part of patient care. Im pretty proud of this, as the first response by an organized medical body to the completely revolutionary aspects of using whole genome sequencing in the practice of medicine, said Dr. … Continue reading →

May 27, 2013 Researchers at the Stanford University School of Medicine have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS. Also known as Lou Gehrig's disease, the progressive, fatal condition, in which the motor neurons that control movement and breathing gradually cease to function, has no cure. Although researchers know of some mutations associated with inherited forms of ALS, the majority of patients have no family history of the disease, and there are few clues as to its cause. The Stanford researchers compared the DNA sequences of 47 patients who have the spontaneous form of the disease, known as sporadic ALS, with those of their unaffected parents. The goal was to identify new mutations that were present in the patient but not in either parent that may have contributed to disease development. Several suspects are mutations in genes that encode chromatin regulators -- cellular proteins that govern how DNA is packed into the nucleus of a cell and how it is accessed when genes are expressed. Protein members of one these chromatin-regulatory complexes have recently been shown to play roles … Continue reading →

Washington, May 27 (ANI): Researchers have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS. Also known as Lou Gehrig's disease, the progressive, fatal condition, in which the motor neurons that control movement and breathing gradually cease to function, has no cure. Although researchers know of some mutations associated with inherited forms of ALS, the majority of patients have no family history of the disease, and there are few clues as to its cause. Researchers at the Stanford University School of Medicine compared the DNA sequences of 47 patients who have the spontaneous form of the disease, known as sporadic ALS, with those of their unaffected parents. The goal was to identify new mutations that were present in the patient but not in either parent that may have contributed to disease development. Several suspects are mutations in genes that encode chromatin regulators - cellular proteins that govern how DNA is packed into the nucleus of a cell and how it is accessed when genes are expressed. Protein members of one these chromatin-regulatory complexes have recently been shown to play roles in … Continue reading →

Prof Keith Muir of Glasgow University said the results were 'not what we would have expected' Five stroke victims have shown small signs of recovery following pioneering stem cell therapy in the UK. Prof Keith Muir of Glasgow University said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving. The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes. Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand. "I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said. "It still feels fairly weak and it's still a wee bit difficult to co-ordinate but it's much better than it was." He added: "I'd like to get back to playing my piano." His wife Claire said: "He had reached a plateau and wasn't really … Continue reading →

Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving. The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes. Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand. "I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate but it's much better than it was."He added: "I'd like to get back to playing my piano." His wife Claire said: "He had reached a plateau and wasn't really improving [after his stroke]. But following the operation he is able to do things he couldn't do before, such as make coffee, dressing, and holding on to things." The study involved patients who suffered strokes … Continue reading →

27 May 2013 Last updated at 00:01 ET By Pallab Ghosh Science correspondent, BBC News Five seriously disabled stroke patients have shown small signs of recovery following the injection of stem cells into their brain. Prof Keith Muir, of Glasgow University, who is treating them, says he is "surprised" by the mild to moderate improvements in the five patients. He stresses it is too soon to tell whether the effect is due to the treatment they are receiving. The results will be presented at the European Stroke Conference in London. BBC News has had the first exclusive interview with one of the patients involved. They are taking part in a small clinical trial involving nine patients in their 60s, 70s and 80s at Glasgow's Southern General Hospital to assess the safety of the procedure which involves injecting stem cells into the damaged brain part. It is one of the first trials in the world to test the use of stem cells in patients. Results to be presented on Tuesday show that there have been no adverse effects on the patients so far and there have been improvements to more than half participating in the trial. However, at this stage it … Continue reading →

May 27 2013 Five stroke victims have shown small signs of recovery following pioneering stem cell therapy. Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving. The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes. Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand. "I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate, but it's much better than it was." He added: "I'd like to get back to playing my piano." His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do … Continue reading →

A group of stroke victims who were given pioneering stem cell therapy have shown small signs of recovery. The five patients had stem cells injected directly into damaged parts of their brains in the hope they would turn into healthy tissue or "kick start" the body's own repair processes. Professor Keith Muir, of Glasgow University , said the results were "not what we would have expected", given the patients had previously shown no signs of improvement. "There's probably a mixture of things going on," he told BBC Radio 4's Today programme. "Quite what it is that's happening in the patients, we won't know for some time to come." Frank Marsh, 80, who is one of the patients taking part in the trial, said he hoped to be able to play the piano again after regaining much of the use of his left hand. "I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said. "It still feels fairly weak and it's still a wee bit difficult to coordinate but it's much better than it was." His wife Claire added: "He had reached a … Continue reading →

May 27 2013 Five stroke victims have shown small signs of recovery following pioneering stem cell therapy. Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving. The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes. Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand. "I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate, but it's much better than it was." He added: "I'd like to get back to playing my piano." His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do … Continue reading →