The family of little Margot Martini has announced the launch of a day to promote the need for potential stem cell donors to join UK and worldwide registries. A year ago today the brave youngster was diagnosed with both acute lymphoblastic leukaemia (ALL) and acute myeloid leukaemia (AML). She was just 14 months old at the time. A worldwide hunt was launched to find a perfect stem cell match, leading to more than 50,000 people coming forward to be tested under the Swab4Margot campaign. Finally in February a suitable donor was found and she underwent a bone marrow transplant. The following month doctors declared she was 99 per cent certain to be disease free, but tests in June revealed a small amount of ALL had returned. Margot's parents Yaser and Vicki made the difficult decision in July to stop her treatment after medical experts told them her chances of being able to live a normal life after further treatment were slim. Now two-year-old, Margot is living out the rest of her days at home with her loving family, but throughout her brave fight Team Margot - the group formed to support her battle - has remained committed to promoting awareness … Continue reading →

A HEALTHCARE worker at Royal Bournemouth Hospital has donated stem cells in a bid to save the life of an unknown man. Claire Waugh, pictured, who has always been a regular blood donor, decided to join the Anthony Nolan stem cell register after her father was diagnosed with prostate cancer three years ago. The healthcare assistant co-ordinator was later identified as a possible match for a man needing life-saving treatment. Following rigorous testing Claire was visited by nurses from the blood cancer charity, who gave her three injections every day for three days to stimulate her bone marrow to produce stem cells. On the fourth day she travelled to Kings College Hospital in London to receive a final set of injections and undergo a stem cell collection in a simple five-hour outpatient procedure, which is similar to giving blood. Claire said: I couldnt move or bend my arm due to the fairly heavy duty needle, but I was looked after really well so in the end the time went very quickly. After donating, Claires stem cells were rushed to the recipient within the required 72 hours. A volunteer from Anthony Nolan told me that if he doesnt survive, there is … Continue reading →

In 2012, there were 6.7 million deaths result from stroke worldwide. This is second only to ischemic heart disease, which caused 7.4 million deaths. CVAs represent 6.7% of all deaths in the U.S. 3rd to cancer at 22.8% and heart disease contributing to 28.5%. This is a common problem, which can affect anyone but becomes more prevalent with age. Stroke is an acute neurologic injury that occurs as a result of diminished oxygen supply to areas of the brain. Usually it is to one specific area but the entire brain can be affected. The most common type of stroke is the ischemic type representing 80% of all strokes while hemorrhagic strokes occur 20% of the time. An ischemic stroke results when there is a sudden obstruction of blood supply usually due to a thrombus or emboli lodge in a blood vessel. A hemorrhagic stroke occurs when there is a sudden bleed either in the brain or in the subarachnoid space- into the cerebrovascular fluid (CSF) surrounding the brain. The symptoms of a stroke can be variable depending on the location within the brain, severity of the stroke and type of stroke. In general symptoms of sudden asymmetrical weakness, difficulty speaking, … Continue reading →

PUBLIC RELEASE DATE: 18-Oct-2014 Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine @bcmhouston HOUSTON -- (Oct. 18, 2014) Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston. In an online report in the Journal of the American Medical Association, the scientists led by Drs. Yaping Yang, laboratory director of the Whole Genome Laboratory at Baylor, and Christine Eng, professor of molecular and human genetics at Baylor and senior director of Baylor's Medical Genetics Laboratories, found a molecular diagnosis (meaning a genetic mutation or variation linked to a disease) in 25 percent of the large group of cases confirming in this much larger group of patients the diagnostic yield from their initial report on the first 250 cases that appeared in the New England Journal of Medicine a little more than a year ago. Eng will also present results of … Continue reading →

Contact Information Available for logged-in reporters only Newswise At least 2 percent of people over age 40 and 5 percent of people over 70 have mutations linked to leukemia and lymphoma in their blood cells, according to new research at Washington University School of Medicine in St. Louis. Mutations in the bodys cells randomly accumulate as part of the aging process, and most are harmless. For some people, genetic changes in blood cells can develop in genes that play roles in initiating leukemia and lymphoma even though such people dont have the blood cancers, the scientists report Oct. 19 in Nature Medicine. The findings, based on blood samples from nearly 3,000 patients, dont mean that people with these genetic mutations are destined to develop a blood cancer. In fact, the vast majority of them wont as the incidence of blood cancers such as leukemia or lymphoma is less than 0.1 percent among the elderly. But its quite striking how many people over age 70 have these mutations, said senior author Li Ding, PhD, of The Genome Institute at Washington University. The power of this study lies in the large number of people we screened. We dont yet know whether having … Continue reading →

Contact Information Available for logged-in reporters only Newswise Audrey Lapidus adored her babys sunny smile and irresistible dimples, but grew worried when Calvin did not roll over or crawl by 10 months and suffered chronic digestive problems. Four neurologists dismissed his symptoms and a battery of tests proved inconclusive. Desperate for answers, Audrey and her husband agreed to have their son become UCLAs first patient to undergo a powerful new test called exome sequencing. Using DNA collected from Calvins and his parents blood, a sophisticated sequencing machine rapidly scanned the boys genome, compared it to his parents and flagged a variant on his 18th chromosome. Calvin was diagnosed with Pitt-Hopkins Syndrome, a rare genetic disorder affecting only 250 children worldwide. At last Audrey and her husband had a concrete diagnosis and clear direction for seeking the best treatment for their son. Now a landmark UCLA study makes a persuasive argument for the routine clinical use of exome sequencing as a valuable tool for diagnosing children like Calvin with rare genetic disorders. Published in the Oct. 18 online edition of the Journal of the American Medical Association, the findings show that exome sequencing produced a definitive diagnosis in 40 percent of … Continue reading →