Washington, November 13 (ANI): A new study has found a genetic link between chronic pancreatitis and alcohol consumption. Researchers from the University of Pittsburgh School of Medicine and more than 25 other health centers across the United States found a genetic variant on chromosome X near the claudin-2 gene (CLDN2) that predicts which men who are heavy drinkers are at high risk of developing chronic pancreatitis. "The discovery that chronic pancreatitis has a genetic basis solves a major mystery about why some people develop chronic pancreatitis and others do not," said David C. Whitcomb, M.D., professor of medicine, cell biology and physiology, and human genetics at the University of Pittsburgh School of Medicine and lead author of the report. "We also knew there was an unexpected higher risk of men developing pancreatitis with alcohol consumption, but until now we weren't sure why. Our discovery of this new genetic variant on chromosome X helps explain this mystery as well," he stated. Chronic pancreatitis is a progressive inflammatory disease characterized by abdominal pain and permanent damage to the pancreas. Most studies report excessive alcohol consumption as the major risk factor for adult-onset chronic pancreatitis. However, according to Dr. Whitcomb, who also is … Continue reading →

If you could know whether your unborn child was going to be born with a genetic defect, would you want that information?Thatisthe basis of a quad test, offered to every pregnant woman, the first in a series of detection tools to determine if something is off with the fetus. In part one of this three part series on genetic selection, 7News looks into how this test works and the conflict between nature and science. When Melanie and Rick Sarro of Lake Charlesdecided to start a family later in life, they knew it carried a risk for pregnancy problems, but that did notdeter their plans. "We knew that we wanted to have children and that we were gonna have to not waste any time to do it," said Melanie. Before the Sarros celebrated their third anniversary, Zachary was here and baby number two was on the way."The pregnancywent very smoothly, it was uneventful," said Rick, "so it was a joyous event for both of them." Because of Melanie's age, 37, her doctor offered a standard quad test, something she did. Dr. Marshall St. Amant is the Director of Maternal Fetal Medicine at Woman's Hospital in Baton Rouge and his team of … Continue reading →

SAN DIEGO, Nov. 12, 2012 /PRNewswire/ --Sequenom, Inc. (SQNM), a life sciences company providing innovative diagnostic testing and genetic analysis solutions, today announced its wholly-owned subsidiary, Sequenom Center for Molecular Medicine (Sequenom CMM), presented results from a study of its RetnaGene AMD laboratory-developed test to predict risk of disease progression during the 2012 Joint Meeting of the American Academy of Ophthalmology and the Asia-Pacific Academy of Ophthalmology in Chicago. This Sequenom CMM laboratory-developed genetic test (LDT) combines patient disease stage with patient genetic variation to evaluate the risk of a patient with early or intermediate AMD to progress to advanced choroidal neovascularization (CNV) disease within 2, 5, and 10 years. CNV is the most common form of 'wet' advanced age-related macular degeneration (AMD), in which new blood vessels in the eye leak fluid, compromising central vision. Advanced disease impacts approximately 10 percent of AMD patients, but is associated with 90 percent of vision loss in AMD. The clinical validation of the laboratory test predicting progression to CNV was conducted using patient DNA samples made available through the National Eye Institute's Age-Related Eye Disease Study (AREDS). More than 2,000 patients were genotyped for 13 single nucleotide gene polymorphisms (SNPs) in genes … Continue reading →

Research of James Millonig, PhD, Featured in Video at Award Ceremony on November 8 Newswise Piscataway, NJ Research that contributed to the development of a new genetic test for Autism Spectrum Disorder (ASD) has earned scientists at the University of Medicine and Dentistry of New Jersey (UMDNJ)-Robert Wood Johnson Medical School and Rutgers, The State University of New Jersey, the coveted Edison Patent Award from the Research & Development Council of New Jersey. The award recognizes a UMDNJ patent (U.S. Patent 7,629,123) for research that established an association between Engrailed Homeobox 2, (EN2), a gene involved in human development, and susceptibility for autism and related disorders. Diagnostic tools developed through this research have been used, in part, to test for the risk of autism in children who have siblings already diagnosed with the disorder. As a New Jersey-based health and sciences institution and participating site in the CDCs autism study, we are very proud of this patent and its recognition by the Research & Development Council of New Jersey, said James Millonig, PhD, associate professor of neuroscience and cell biology and a member of the Center for Advanced Biotechnology and Medicine at Robert Wood Johnson Medical School. In families where … Continue reading →