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American journal of human genetics , Vol. 93, No. 4. , pp. 687-696, doi:10.1016/j.ajhg.2013.09.002 High-throughput sequencing technologies produce short sequence reads that can contain phase information if they span two or more heterozygote genotypes.
Shortly after the death of his newborn son, 43-year-old Erik Drewniak was hospitalized with some of the same symptoms that killed the infant-high fever, severe respiratory distress, and hemorrhaging in the lungs, intestines, and brain. Infectious agents had been ruled out in both cases.
We respond to infections in two fundamental ways. One, which has been the subject of intensive research over the years, is "resistance," where the body attacks the invading pathogen and reduces its numbers.
Parents may be well aware that how much and what they speak to their kids influences how well children pick up a particular language. While the role of environment in language building skills cannot be discounted, according to new research, it is genetics that contributes to the development of language during infancy.
People with genetic diseases often have to embark on an odyssey from one doctor to the next. Fewer than half of all patients who are suspected of having a genetic disease actually receive a satisfactory diagnosis.
New research shows that schizophrenia isn't a single disease but a group of eight genetically distinct disorders, each with its own set of symptoms. The finding could be a first step toward improved diagnosis and treatment for the debilitating psychiatric illness.
Approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy , According to recent studies. This illness is a neurodegenerative disease that causes muscles to weaken over time.
Twenty-five years ago this month, the medical world was turned on its ear with the isolation of the gene that causes cystic fibrosis, a devastating inherited disease that usually killed children by their late teens. At the helm of the research was Lap-Chee Tsui, who led the team at Toronto's Hospital for Sick Children that made the seminal discovery in collaboration with scientists at the University of Michigan.
Neuroscientists have found that a gene mutation that arose more than half a million years ago may be key to humans' unique ability to produce and understand speech. Researchers from MIT and several European universities have shown that the human version of a gene called Foxp2 makes it easier to transform new experiences into routine procedures.
T lymphocyte activation by antigen conditions adaptive immune responses and immunopathologies, but we know little about its variation in humans and its genetic or environmental roots. We analyzed gene expression in CD4+ T cells during unbiased activation or in T helper 17 conditions from 348 healthy participants representing European, Asian, and African ancestries.
It has long been recognized that about four per cent of patients who are prescribed particular drugs for IBD go on to develop pancreatitis, an inflammation of the pancreas, which can be fatal. Now researchers have found that 17 percent of patients who have two copies of a particular genetic marker are likely to go on to develop pancreatitis if they are prescribed thiopurine drugs.
From left: Michael Cain, vice president for health sciences and medical school dean, Steve Koury, research assistant professor, and Congressman Brian Higgins made the announcement at UB's Behling Simulation Center. Photo: Sandra Kicman "UB is to be applauded for winning this competitive grant and leading on forward thinking community partnerships that fill a real need both in terms of scientific discovery and developing the next generation of researchers."
Osteogenesis imperfecta , a skeletal disorder caused by mutations in type I collagen, exhibits structural and functional differences on a genotypic level that contribute to diverse phenotypes. Brendan Lee, MD, PhD, from the Baylor College of Medicine discussed the genetics of OI and homeostatic mechanisms in the skeleton at the 2014 American Society of Bone and Mineral Research Conference in Houston, Texas.
Who is most likely to develop MCI? In this posting, we talk about five risk factors for MCI and what you can do about them. 1. Age - the older you are, the more likely you are to develop MCI.
Response Genetics it has launched a new and innovative Non-Small Cell Lung Cancer Profile that merges rapid turnaround on National Comprehensive Cancer Network guideline markers with next-generation sequencing. When I covered the company in depth I had discussed that novel tests in the pipeline were being developed and could serve as a catalyst for the company.
A rare genetic disorder known as Jacobsen syndrome has been linked with autism, according to a recent joint investigation by researchers at San Diego State University and the University of California, San Diego. In addition to suggesting better treatment options for people with Jacobsen syndrome, the finding also offers more clues into the genetic underpinnings of autism.
Updated: Wed Sep 17, 2014 01:23 am
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