Latest Human genome Stories
April Flowers for redOrbit.com - Your Universe Online Our primate cousins share over 90% of our DNA, but the expression or activity patterns of genes differ across species in ways that explain the distinct biology and behavior of each species. In a presentation at the American Society of Human Genetics 2012 meeting, University of Chicago associate professor of human genetics Yoav Gilad, Ph.D. described the DNA factors that contribute to the differences. Up to 40 percent of the...
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...
Research presented at American Society of Human Genetics 2012 A presentation at the American Society of Human Genetics 2012 meeting updated genetics experts about a one-year-old research initiative that brought together researchers, clinicians and policy experts to tackle the challenges of incorporating new genomic technologies into clinical care of newborns, infants and children with anatomical defects whose causes are unknown. Among the challenges is interpreting how variations in...
Scientists have adopted a novel laboratory approach for determining the effect of genetic variation on the efficiency of the biological process that translates a gene's DNA sequence into a protein, such as hemoglobin, according to a presentation, Nov. 6, at the American Society of Human Genetics 2012 meeting in San Francisco. In the 0.1% of the DNA that differs between any two individuals, scientists search for the biological mechanisms underlying human genetic differences, including...
REDWOOD CITY, Calif., Nov. 6, 2012 /PRNewswire/ -- Ingenuity® Systems, a leading provider of biomedical information and analysis solutions, today highlighted strong adoption of its Variant Analysis platform at the American Society of Human Genetics Annual Meeting in San Francisco. Variant Analysis, a web-based analysis application, answers a critical need for researchers trying to rapidly identify relevant casual variants in human diseases from re-sequencing data. Over the past 6...
Johns Hopkins researchers have succeeded in teaching computers how to identify commonalities in DNA sequences known to regulate gene activity, and to then use those commonalities to predict other regulatory regions throughout the genome. The tool is expected to help scientists better understand disease risk and cell development. The work was reported in two recent papers in Genome Research, published online on July 3 and Sept. 27. “Our goal is to understand how regulatory information...
Lee Rannals for redOrbit.com - Your Universe Online A multinational team of scientists reports that they have successfully sequenced 1,092 human genomes from individuals across the globe. Their new study is the first to break the "1,000 genomes barrier." The researchers say the feat is a collegial effort to equip biologists and physicians with information that can be used to understand the normal range of human genetic variants so a patient's diseased genome can be interpreted in a...
PROVIDENCE, R.I., Oct. 10, 2012 /PRNewswire/ -- Nabsys, Inc., a life sciences company pioneering solid-state, single-molecule positional sequencing for broad applicability in DNA analysis, today announced two additions to its senior management team, Peter Lewis as chief financial officer and Darren Lee as vice president, business development. These appointments are part of the company's transition from a technology development focus to a commercial entity that is manufacturing and...
International study with researchers at The Neuro reveals links with other neurodegenerative diseases Scientists at the Montreal Neurological Institute and Hospital – The Neuro, McGill University working with a team at Oxford University have uncovered the genetic defect underlying a group of rare genetic disorders. Using a new technique that has revolutionized genetic studies, the teams determined that mutations in the RMND1 gene were responsible for severe neurodegenerative...
Connie K. Ho for redOrbit.com – Your Universe Online Technology is changing faster than ever. With the click of a button you can send messages to friends, share photos and watch videos. This rapid speed is also being seen in medical technology. A new study found that doctors can quickly diagnose genetic diseases in babies with a simple blood test, allowing doctors to decode the baby’s complete genome in two days as opposed to the current time frame of at least six weeks. According...
