Project puts together genetic data from more than 1,000 people around the world Groundbreaking research paves the way for personalised cures By Mark Prigg PUBLISHED: 13:52 EST, 31 October 2012 | UPDATED: 13:52 EST, 31 October 2012 Scientists have created a map of gene mutations in more than 1,000 people around the world in a breakthrough that could lead to new treatments for cancer, heart disease and other illnesses. The 1,000 Genomes Project which compares the DNA of participants from fourteen different populations also brings targeted, individualised therapy for patients a step closer. By mapping the differences in our make-up researchers can understand why some people may be more susceptible to inherited disease or other genetic conditions. Scientists have created a map of gene mutations in more than 1,000 people around the world - a breakthrough that could lead to new treatments for cancer, heart disease and other illnesses It took the international team - including British scientists - five years to sequence the complete DNA of 1,092 individuals in England and Scotland as well as Africa, East Asia, the Americas and other European countries. Professor Aravinda Chakravarti, of the Johns Hopkins School of Medicine in Baltimore, said: 'The DNA … Continue reading →

ScienceDaily (Oct. 31, 2012) Completing the second phase of the 1000 Genomes Project, a multinational team of scientists reports that they have sampled a total of 1092 individuals from 14 different populations and sequenced their full genomes. The researchers described the feat as a collegial effort to equip biologists and physicians with information that can be used to understand the normal range of human genetic variants so that a patient's disease genome can be interpreted in a broader context. A report on the research, published online in Nature on Nov. 1 represents the culmination of five years of work, says Aravinda Chakravarti, Ph.D., professor of medicine and pediatrics and a member of the Institute of Genetic Medicine at the Johns Hopkins School of Medicine. Chakravarti helped to design the population genetics sampling plan. "The DNA donors in the study were not known to have any diseases, so the study gives us the genomic background we need for understanding which genetic variations are 'within the normal range,'" Chakravarti says. "With this tool, scientists now have a standard with which they can compare the genome of someone with diabetes, for example." That in turn, Chakravarti says, will increase opportunities for understanding the … Continue reading →

ScienceDaily (Oct. 31, 2012) Crohn's disease (CD) and ulcerative colitis (UC) -- inflammatory diseases of the gastrointestinal tract -- have puzzled the scientific community for decades. Ten years ago, researchers recognized that both genes and the environment contributed to these diseases but knew little about precisely how and why illness occurred. To begin to narrow in on the key pathways involved, they would need thousands of patients' samples, millions of data points, and the commitment of physicians and scientists at dozens of institutions. Today, researchers from across the CD and UC communities have come together to share raw data as well as newly collected genetic information to dissect the biology of a group of conditions that affects millions of people worldwide. Their research centers on the two diseases, which are collectively known as inflammatory bowel disease (IBD) and suggests a fundamental connection between risk of IBD and genes involved in other immune-related diseases and the immune system's response to pathogens. The work by researchers from the Broad Institute, Massachusetts General Hospital, Yale School of Medicine, Cedars-Sinai Medical Center, and dozens of other organizations appears in a Nature paper this week. "This study marks the first time we've acquired and combined … Continue reading →

ScienceDaily (Nov. 1, 2012) In one of the largest studies of its kind ever conducted, an international team of scientists has thrown new light on the genetic basis of the inflammatory bowel diseases (IBD). Crohn's disease and ulcerative colitis, the two most common forms of IBD, are chronic inflammatory digestive disorders. Dr. John Rioux, researcher at the Montreal Heart Institute and Associate Professor of Medicine at the Universit de Montral, is one of the researchers who have identified 71 genetic regions newly associated with inflammatory bowel disease (IBD), increasing the total number discovered to date to 163, in one of the largest studies of its kind. Also, the study points out that these regions showed a striking overlap with those implicated in autoimmune diseases and in immune deficiencies. Even more surprising was the observation of a significant overlap with genetic regions controlling our response to microbial infections such as in the case of tuberculosis. The research was published Nov. 1 in the journal Nature. Moreover, these findings suggest that IBD results from overactive immune defence systems that evolved to fight off serious bacterial infections. In IBD, the body's immune system produces an ongoing inflammatory reaction in the intestinal tract that … Continue reading →

Newswise By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide. The 1000 Genomes Project involved some 200 scientists at Washington University School of Medicine in St. Louis and other institutions. Results detailing the DNA variations of individuals from 14 ethnic groups are published Oct. 31 in the journal Nature. Eventually, the initiative will involve 2,500 individuals from 26 populations. With this resource, researchers have a roadmap to search for the genetic origins of diseases in populations around the globe, says one of the study's co-principal investigators, Elaine Mardis, PhD, co-director of The Genome Institute at Washington University. We estimate that each person carries up to several hundred rare DNA variants that could potentially contribute to disease. Now, scientists can investigate how detrimental particular rare variants are in different ethnic groups. At the genetic level, any two people are more than 99 percent alike. But rare variants those that occur with a frequency of 1 percent … Continue reading →

Public release date: 31-Oct-2012 [ | E-mail | Share ] Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics In response to the on-line publication by the European Journal of Human Genetics today (Wednesday) of an article by US researchers led by Dr. Robert Cook-Degan, a former member of the US Office of Technology Assessment, showing that Myriad Genetics, providers of the BRCA1/2 genetic test in the US, has amassed vast quantities of clinical data without sharing it, Professor Martina Cornel, chair of the European Society of Human Genetics' Professional and Public Policy committee, said: "We are very concerned that such important data is being withheld from those who most need it. Interpreting the variants of unknown significance (VUS) that may be found on analysing the patient's genome plays an essential part in being able to provide proper counselling and if necessary, preventive or therapeutic guidance. By not sharing their data on the VUS obtained from individuals undergoing BRCA1/2 testing, where Myriad is the sole commercial provider of a test in the US, geneticists have been unable to develop the up-to-date algorithms that are necessary to best interpret the effects of genetic variants. While Myriad has access to public databases … Continue reading →