Public release date: 22-May-2013 [ | E-mail | Share ] Contact: Marcus Neitzert marcus.neitzert@dzne.de 49-228-433-02271 Helmholtz Association of German Research Centres The scientists report these findings in the current online edition of "The Lancet Neurology". This pan-European study could open up new possibilities of early diagnosis and smooth the way for treatments which tackle diseases before the patient's nervous system is irreparably damaged. "Spinocerebellar ataxias" comprise a group of genetic diseases of the cerebellum and other parts of the brain. Persons affected only have limited control of their muscles. They also suffer from balance disorders and impaired speech. The symptoms originate from mutations in the patient's genetic make-up. These cause nerve cells to become damaged and to die off. Such genetic defects are comparatively rare: it is estimated that about 3,000 people in Germany are affected. It is known that there are various subtypes of these neurodegenerative diseases. The age at which the symptoms manifest consequently fluctuates between about 30 and 50. "Our aim was to find out whether specific signs can be recognized before a disease becomes obvious," says project leader Prof. Thomas Klockgether, Director for Clinical Research at the DZNE and Director of the Clinic for Neurology at … Continue reading →

Washington, May 23 (ANI): A global team of scientists has completed the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases. The exact cause of these diseases - autoimmune thyroid disease, coeliac disease, Crohn's disease, psoriasis, multiple sclerosis and type 1 diabetes- is unknown, but is believed to be a complex combination of genetic and environmental factors. In each disease only aproportion of the heritability is explained by the identifiedgenetic variants. The techniques used to date, have generally identified common (in the population) variants of weak effect. In this study, using high-throughput sequencing techniques, the team led by researchers from Queen Mary, University of London, sought to identify new variants, including rare and potentially high risk ones, in 25 previously identified risk genes in a sample of nearly 42,000 individuals (24,892 with autoimmune disease and 17,019 controls). It has been suggested - in the 'rare-variant synthetic genome-wide association hypothesis' - that a small number of rare variants in risk genes are likely to be a major cause of the heritability of these conditions. However, the study suggests that the genetic risk of these diseasesmore likely involves a complex combination of hundreds of weak-effect … Continue reading →

May 23, 2013 Lee Rannals for redOrbit.com Your Universe Online A new technique featured in the Journal of Visualized Experiments (JoVE) could lead to the development of a genetic thermometer that could assess a patients health in relation to other individuals. The method developed by the laboratory of Dr. Gil Atzmon at New Yorks Albert Einstein College of Medicine measures telomere length, which serve as the caps to chromosomes. Telomeres mark the ends of genetic material and ensure that genes do not degrade as cells divide. Think of telomere length as though it was a thermometer. It measures the health of your genetic material, Dr. Atzmon explains. It tells you how fit you are in relation to the age you are. If you have longer telomeres you are in good shape, if you have shorter telomeres you are less fit for your age and are not in good health. Telomerase activity eclipses as people age, and as a result telomeres shorten and can be responsible for age related afflictions and some cancers. An individuals overall health can impact how quickly these telomeres degrade. Telomere length and telomerase function impacts several realms of biological and medical research- from preventative aging models … Continue reading →

If you want to keep your DNA to yourself, be sure not to leave any stray hairs, Q-tips or underwear lying around. There are genetic testing companies out there willing to reveal your most intimate biological secrets to anybody -- without your knowledge or permission. And under California law, such genetic snooping is perfectly legal. Now, legislators in Sacramento are considering a bill to change that. Senate Bill 222, which faces a key hearing Thursday, would require a donor's consent to collect, analyze or share genetic information. While the legislation might seem like a slam-dunk in the ever-evolving battle between technology and privacy, it's generating opposition from unlikely quarters: major research universities such as Stanford and the University of California, which argue that providing those protections will create unnecessary red tape and costs. "We have privacy laws in place to protect health and financial information," said the bill's author, Alex Padilla, D-Pacoima. "But arguably the most personal information about us -- our own genetic profile -- isn't protected." Most Californians are probably familiar with genetic testing companies such as 23AndMe that will screen customers' DNA for their predisposition to cancer, diabetes, Parkinson's, Alzheimer's and a host of other diseases. But … Continue reading →

Public release date: 21-May-2013 [ | E-mail | Share ] Contact: Lori J. Schroth ljschroth@partners.org 617-534-1604 Brigham and Women's Hospital Boston, MA New research from Brigham and Women's Hospital (BWH) finds that a genetic risk factor for pulmonary fibrosis, an uncommon but deadly lung disease, may be effective in identifying individuals at risk for this disease. These findings will be presented at the American Thoracic Society International Conference and publish online simultaneously at the New England Journal of Medicine on May 22 and will appear in the July 4, 2013 print edition. "While this variant of the MUC5B gene is fairly common, pulmonary fibrosis is not. Our findings suggest that pulmonary fibrosis may be a part of a much more common, but likely less severe, syndrome and could potentially be predicted on the basis of the MUC5B genetic variant," said Gary M. Hunninghake, MD, MPH, a physician researcher in the pulmonary and critical care division at BWH and co-corresponding author of the research paper. "While too early to tell how important this variant may be in clinical practice, this finding could open new research avenues into this disease." Researchers looked at a common variant of the gene for mucin-5B, a … Continue reading →