Latest Medical genetics Stories
LEXINGTON, Mass., Nov. 19, 2012 /PRNewswire/ -- Shire plc (LSE: SHP, NASDAQ: SHPGY) today announced a new initiative - the Shire Rare Disease Impact Report - to research the health, psycho-social, societal and economic impact of rare diseases in patient and medical communities. Comprehensive surveys of patients, caregivers, physicians, payors and thought leaders in the United States and the United Kingdom are underway. Survey results will be published and available in the first half...
Research presented at American Society of Human Genetics annual meeting to occur Nov. 6 to 10 in San Francisco A research team reported that next generation sequencing of the exome, the 1 to 2% of the DNA containing the genes that code for proteins, enabled the identification of the genetic causes of unexplained intellectual disability in over 50% of patients in a study conducted at Radboud University Medical Centre in Nijmegen, The Netherlands. "Through next generation sequencing, we...
In 2011, a settlement between parents and the Texas Department of State Health Services resulted in the destruction of 5.3 million “blood spots” taken for newborn screening. The settlement alleviated some parents’ concern about using the left-over spots for research without their explicit permission, but experts from Baylor College of Medicine, Johns Hopkins University in Baltimore and Harvard University and Brigham and Women’s Hospital in Boston warn in an article in Science...
BETHESDA, Md., Nov. 7, 2012 /PRNewswire-USNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) released a new official Position Statement on the Public Disclosure of Clinically Relevant Genome Variants. This important new statement addresses the problems resulting from gene patent monopolies that have allowed some to develop proprietary databases of the clinical meaning of the variants in particular genes. Michael S. Watson, Ph.D., FACMG, executive director of...
Lee Rannals for redOrbit.com – Your Universe Online A drug that has the ability to correct errors in a genetic code has been approved for the first time ever in Europe. The European Commission has given Glybera authorization to sell the drug next summer for treating an ultra rare genetic disease. The small Dutch biotech company's drug will cost around $1.6 million per patient, a new record price for medicine. The drug is a gene therapy for a rare disease that leaves people...
CARLSBAD, Calif., Nov. 1, 2012 /PRNewswire/ -- Isis Pharmaceuticals, Inc. (NASDAQ: ISIS) announced the initiation of a Phase 1b/2a study evaluating ISIS-SMNRx in children with spinal muscular atrophy (SMA). SMA is a severe and rare genetic neuromuscular disease characterized by muscle atrophy and weakness and is the most common genetic cause of infant mortality. "SMA is a devastating disease that leads to the premature loss of nerve cells in the spinal cord necessary for normal...
ALBANY, New York, October 29, 2012 /PRNewswire/ -- According to the latest market report published by Transparency Market Research (http://www.transparencymarketresearch.com) "Preimplantation Genetic Diagnosis (PGD) Market - Global Industry Analysis, Market Size, Market Share & Forecast 2012 - 2018 [http://www.transparencymarketresearch.com/preimplantation-genetic-diagnosis-market.html ] ," the global pre-implantation genetic diagnosis market was estimated to be worth USD...
Connie K. Ho for redOrbit.com – Your Universe Online Researchers from Oregon Health and Science University (OHSU) recently revealed a new gene therapy method that can successfully prevent particular inherited diseases. The scientists worked under the college’s Oregon National Primate Research Center as well as the Department of Obstetrics and Gynecology at OHSU and were able to complete the procedure in human cells. With the findings of the study, the new gene therapy will provide new...
SAN DIEGO and CAMBRIDGE, Mass., Oct. 22, 2012 /PRNewswire/ -- Good Start Genetics®, a leading and innovative molecular diagnostics company offering the new gold standard for genetic disease carrier screening, announced today that it has launched an expanded menu of testing services. The announcement, made at this week's annual meeting of the American Society for Reproductive Medicine (ASRM), means that Good Start Genetics' screening service, GoodStart Select(TM), now offers...
BETHESDA, Md., Oct. 18, 2012 /PRNewswire-USNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) has unveiled a new video aimed at encouraging medical students to pursue training in medical genetics. The video, "Medical Genetics is the Future of Medicine," is available on The ACMG Channel on YouTube at www.youtube.com/theacmgchannel and is also being distributed to medical schools and Medical Genetics Training Programs around the country. Individuals may also...
