Latest Medical genetics Stories
The four guidelines include one outlining the organisation of a PGD centre and three relating to the methods used: amplification-based testing, fluorescence in situ hybridisation (FISH)-based testing and polar body/embryo biopsy."The guidelines are a detailed update to the Consortium's initial PGD guidelines, published in the same journal in 2005. They have been developed as a set which, taken together, form a complete best-practice compendium," said Gary Harton, chairman of ESHRE's...
U-M researchers prove power of emerging technology as they identify new gene involved in inherited pediatric kidney diseaseA University of Michigan-led research team has identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ago. The success offers hope that scientists can speed the painstaking search for the genes responsible for many rare diseases and test drugs to treat...
The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment. Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charité Universitätsmedizin - Berlin have succeeded in using a...
AUSTIN, Texas, Aug. 26 /PRNewswire-FirstCall/ -- Luminex Corporation (Nasdaq: LMNX), the worldwide leader in multiplexed solutions, today announced the full commercial launch of its xTAG® Cystic Fibrosis 60 Kit v2, a new diagnostic test that can simultaneously screen a single blood sample for up to 60 cystic fibrosis-causing genetic mutations in a matter of hours. (Logo: http://photos.prnewswire.com/prnh/20100104/LUMINEXLOGO) (Logo:...
MADISON, N.J., July 28 /PRNewswire/ -- An accurate, faster testing option to identify female carriers and other patients with genetic abnormalities that cause Fragile X Syndrome is now available to physicians in all fifty states with the recent approval in New York. Fragile X is the leading cause of inherited mental retardation and the most common known single gene cause of autism. XSense®, Fragile X with Reflex, from Quest Diagnostics Incorporated (NYSE: DGX), the world's leading...
Scientists combine new and classic approaches to discover rare disease geneBy inspecting the sequence of all 3 billion "letters" that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.Reporting their results in the June 17 issue of PLoS Genetics, the team says an altered version of the gene PTPN11 is the cause of metachondromatosis, a disorder...
Study shows gene-environment interaction in congenital heart diseaseA pregnant mother's diet may be able to interact with the genes her unborn child inherits and influence the type or severity of birth defect according to research funded by the Wellcome Trust and the British Heart Foundation (BHF). The study, published in the journal Human Molecular Genetics, suggests that mothers who eat a high fat diet before and through pregnancy could be inadvertently putting the health of their offspring...
A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes. They used zebrafish as a model to analyze the function of every known mutation in an inherited syndrome called BBS, Bardet-Biedl Syndrome.Being able to analyze the functions and interactions of all mutations in a complex inherited disease could have implications for a broad range of disorders. The study found...
An international consortium of genetics experts has issued a consensus statement recommending chromosomal microarray (CMA) as the new standard practice for genetic evaluation of children with unexplained developmental delay, autism or birth defects.The statement and a related research review are published in the May 14, 2010 issue of the American Journal of Human Genetics."CMA gives us a huge improvement in the diagnostic yield of genetic testing and in our ability to counsel parents...
BETHESDA, Md., April 1 /PRNewswire-USNewswire/ -- The American College of Medical Genetics (ACMG), one of the original plaintiffs in the anti-gene-patenting lawsuit filed in 2009, celebrated the US District Court ruling yesterday that genes are "unpatentable." The outcome of this case is likely to have far-reaching positive implications for physicians, researchers and patients. "The invalidation of gene patents will allow patients to get second opinions on test results, encourage quality...
