OTTAWA, Feb. 29, 2012 /CNW/ - The Harper Government today announced new research aimed at improving the lives of people with rare diseases. The announcement was made by the Parliamentary Secretary to the Minister of Health, Dr. Colin Carrie, on behalf of the Honourable Leona Aglukkaq, Minister of Health. "Our Government is committed to improving the quality of life of Canadians," said Dr. Carrie. "Today's announcement is about helping patients and families affected by a rare disease and improving the lives of those living with these conditions." The overall objective of the research is to transform fundamental biological research into medical practice and treatments in the area of rare diseases. For example, one team is conducting research on Fabry disease, a rare condition that affects many organ systems and results in a reduced life expectancy. This team will conduct a clinical research trial involving gene therapy, with the ultimate goal of establishing an effective treatment for this disease. In total, nine collaborative research teams will be supported. They will investigate a range of issues related to rare diseases, including basic biological science, health services, and policies. "CIHR is pleased to support these new research teams," said Dr. Lasko, Scientific Director … Continue reading →

MOUNTAIN VIEW, Calif., Feb. 29, 2012 (GLOBE NEWSWIRE) -- Complete Genomics Inc. (Nasdaq:GNOM - News), the whole human genome sequencing company, today announced the formation of its Genomic Medicine Advisory Board (GMAB). The GMAB will provide insight and guidance on the best ways for the company to provide sequencing services to healthcare organizations and physicians interested in implementing genomic medicine in their practice. Inaugural board members include distinguished physicians and scientists. Robert Nussbaum, MD, Holly Smith Professor of Medicine, chief of the Division of Medical Genetics in the Department of Medicine, and director of the Cancer Risk and Cardiovascular Genetics Programs at the University of California, San Francisco, will serve as GMAB chairman. "There are a number of major challenges to deploying whole genome sequencing in the clinic," said Dr. Nussbaum. "The Complete Genomics GMAB is a wonderful opportunity to assemble thought leaders in genomic medicine to begin to define the 'clinical genome' and how to make it most useful and accessible to clinicians, establish technical and ethical standards, and address some of the regulatory and reimbursement obstacles that exist in this rapidly-evolving field. Complete Genomics is committed to doing this right." Founding members of the Complete Genomics GMAB include … Continue reading →

Embargoed for Release Wednesday, February 29, 2012 9 a.m. EST An online tool launched today by the National Institutes of Health will make it easier to navigate the rapidly changing landscape of genetic tests. The free resource, called the Genetic Testing Registry (GTR), is available at http://www.ncbi.nlm.nih.gov/gtr/. "Im delighted that NIH has created this powerful, new tool. It is a tremendous resource for all who are struggling to make sense of the complex world of genetic testing," said NIH Director Francis S. Collins, M.D., Ph.D., who unveiled GTR at NIH's observance of international Rare Disease Day. "This registry will help a lot of people from health care professionals looking for answers to their patients diseases to researchers seeking to identify gaps in scientific knowledge." Genetic tests currently exist for about 2,500 diseases, and the field continues to grow at an astonishing rate. To keep pace, GTR will be updated frequently, using data voluntarily submitted by genetic test providers. Such information will include the purpose of each genetic test and its limitations; the name and location of the test provider; whether it is a clinical or research test; what methods are used; and what is measured. GTR will contain no confidential … Continue reading →