30-05-2012 10:32 Nicolas H. Zech, Congress President Where to next for PGD? From polar body to blastocyst -- the evolving genome Dear Colleagues! On behalf of the Preimplantation Genetic Diagnosis International Society (PGDIS) we take great pleasure in inviting you to our biannually held 11th International Conference in Bregenz, Austria. The PGD Conference will address a much wider range of topics than PGD, as the recent developments in related areas may soon move PGD from a research tool to the basic procedure in reproductive medicine and genetic practices. First of all, the recent application of microarray technology and next generation sequencing may clearly improve the accuracy of PGD for genetic and chromosomal disorders, so array-CGH, SNP arrays, genome wide analysis and next generation sequencing for single cell analysis will be one of the major topics of the Conference. In addition some related theoretical issues, such as molecular aspects of meiosis and cell fate in the preimplantation embryo will be also addressed. On the other hand, because of increasing importance of clinical aspects of PGD, a number of Workshops will be organized on advance topics in clinical PGD, as well as a few debates on controversial issues in PGD, such as … Continue reading →

Public release date: 31-May-2012 [ | E-mail | Share ] Contact: Erin Tornatore erin.tornatore@childrens.harvard.edu 617-919-3110 Children's Hospital Boston Boston, Mass. Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder. The discovery raises the hope that, for the first time, it will be possible to develop targeted medical treatments capable of delaying, reversing or possibly preventing CLOVES's debilitating consequences. Importantly, it also demonstrates the potential of advanced DNA sequencing technologies for identifying the underlying molecular roots of malformation disorders that are genetic but not hereditary. The teamled by Matthew Warman, MD, director of the Orthopedic Research Laboratories at Boston Children's, and Kyle Kurek, MD, of the hospital's department of Pathology, and members of the hospital's Vascular Anomalies Centerreported the discovery today in the online edition of the American Journal of Human Genetics. Some 90 children worldwide have been diagnosed with CLOVES (which stands for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevis, Spinal/skeletal anomalies/scoliosis) since 2006, when the condition was first characterized by Boston Children's Ahmad Alomari, MD, … Continue reading →

May 31, 2012 Connie K. Ho for RedOrbit.com Nature versus nurture has always been a highly debated question in the sciences. This discussion has been seen in a research project focused on smoking, where scientists determined that genetics can play a role in how patients respond to treatments. Researchers from the Washington University School of Medicine found that genes can show how smokers will respond to medication to quit the habit; they found that gene variations that make it difficult to stop smoking will also make smokers respond to nicotine-replacement therapy and treatments. The study, published in a recent issue of the American Journal of Psychiatry, found that it could be possible to predict how patients respond to drug treatments for smoking cessation in the future based on the gene variations. Smokers whose genetic makeup puts them at the greatest risk for heavy smoking, nicotine addiction and problems kicking the habit also appear to be the same people who respond most robustly to pharmacologic therapy for smoking cessation, explained senior investigator Dr. Laura Jean Bierut, a professor of psychiatry, in a prepared statement. Our research suggests that a persons genetic makeup can help us better predict who is most likely … Continue reading →

ScienceDaily (May 31, 2012) When flies are made to lose a gene with links to Restless Legs Syndrome (RLS), they suffer the same sleep disturbances and restlessness that human patients do. The findings reported online on May 31 in Current Biology, a Cell Press publication, strongly suggest a genetic basis for RLS, a condition in which patients complain of an irresistible urge to move that gets worse as they try to rest. "Although widely prevalent, RLS is a disorder whose pathophysiological basis remains very poorly understood," said Subhabrata Sanyal of Emory University School of Medicine. "The major significance of our study is to highlight the fact that there might be a genetic basis for RLS. Understanding the function of these genes also helps to understand and diagnose the disease and may offer more focused therapeutic options that are currently limited to very general approaches." Sanyal's team recognized that a number of genome-wide association studies in humans had suggested connections between RLS and variation in a single gene (BTBD9). "BTBD9 function or its relationship to RLS and sleep were a complete mystery," Sanyal said. His team realized that there might be a way to shed some light on that mystery in … Continue reading →