Discover the Science of Health
According to a new study by researchers at the National Institute on Alcohol Abuse and Alcoholism (NIAAA), National Cancer Institute (NCI), and the U.S. Department of Agriculture (USDA), people who drink more are also likely to eat less fruit and consume more calories from a combination of alcoholic beverages and foods high in unhealthy fats and added sugars.
The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.
Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.
The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease. As such, the registry will have several key functions:
NIH Director Francis S. Collins, M.D., Ph.D., said:
The need for this database reflects how far we have come in the last 10 years. The registry will help consumers and health care providers determine the best options for genetic testing, which is becoming more and more common and accessible. Our combined expertise in biomedical research and managing such large databases makes NIH the ideal home for the registry.
The GTR project will be overseen by the NIH Office of the Director. The National Center for Biotechnology Information (NCBI), part of the National Library of Medicine at NIH, will be responsible for developing the registry, which is expected to be available in 2011. GTR genetic test data will be integrated with information in other NIH/NCBI genetic, scientific, and medical databases to facilitate the research process. This integration will allow scientists to make, more easily and effectively, the kinds of connections that ultimately lead to discoveries and scientific advances.
During the development process, NIH will engage with stakeholders — such as genetic test developers, test kit manufacturers, health care providers, patients, and researchers — for their insights on the best way to collect and display test information. In addition, other federal agencies, including the Food and Drug Administration and the Centers for Medicare and Medicaid Services, will be consulted.
More information about the Genetic Testing Registry and NCBI is available at: http://www.ncbi.nlm.nih.gov/gtr/.
Source: NIH News
Investigators have developed a new mathematical approach to analyze molecular data derived from complex mixtures of immune cells. This approach, when combined with well-established techniques, readily identifies changes in small samples of human whole blood, and has the potential to distinguish between health and disease states.
Led by Mark Davis, Ph.D., and Atul Butte, M.D., Ph.D., of Stanford University, Calif., the team of investigators received support from the National Institute of Allergy and Infectious Diseases (NIAID), as well as the National Heart, Lung, and Blood Institute and the National Cancer Institute, all part of the National Institutes of Health. Details about their work appear online at Nature Methods.
“Defining the status of the human immune system in health and disease is a major goal of human immunology research,” says NIAID Director Anthony S. Fauci, M.D. “A method allowing clinicians to accurately and quickly characterize the many different immune cells in human blood would be a valuable research and diagnostic tool.”
Over the past 15 years, the technology for gene expression microarrays, which allow investigators to identify and measure relative amounts of many different genes in parallel, has advanced tremendously. Today researchers can measure nearly every gene in the human genome using very small amounts of blood. However, blood contains numerous types of immune cells, such as lymphocytes, basophils and monocytes, and when microarray analysis is performed on this mixture, the interpretation of the results becomes problematic.
National Institutes of Health (NIH) scientists investigating how prion diseases destroy the brain have observed a new form of the disease in mice that does not cause the sponge-like brain deterioration typically seen in prion diseases. Instead, it resembles a form of human Alzheimer’s disease, cerebral amyloid angiopathy, that damages brain arteries.
The study results, reported by NIH scientists at the National Institute of Allergy and Infectious Diseases (NIAID), are similar to findings from two newly reported human cases of the prion disease Gerstmann-Straussler-Scheinker syndrome (GSS). This finding represents a new mechanism of prion disease brain damage, according to study author Bruce Chesebro, M.D., chief of the Laboratory of Persistent Viral Diseases at NIAID’s Rocky Mountain Laboratories.
Prion diseases, also known as transmissible spongiform encephalopathies, primarily damage the brain. Prion diseases include mad cow disease or bovine spongiform encephalopathy in cattle; scrapie in sheep; sporadic Creutzfeldt-Jakob disease (CJD), variant CJD and GSS in humans; and chronic wasting disease in deer, elk and moose.
The role of a specific cell anchor for prion protein is at the crux of the NIAID study. Normal prion protein uses a specific molecule, glycophosphoinositol (GPI), to fasten to host cells in the brain and other organs. In their study, the NIAID scientists genetically removed the GPI anchor from study mice, preventing the prion protein from fastening to cells and thereby enabling it to diffuse freely in the fluid outside the cells.
The scientists then exposed those mice to infectious scrapie and observed them for up to 500 days to see if they became sick. The researchers documented signs typical of prion disease including weight loss, lack of grooming, gait abnormalities and inactivity. But when they examined the brain tissue, they did not observe the sponge-like holes in and around nerve cells typical of prion disease. Instead, the brains contained large accumulations of prion protein plaques trapped outside blood vessels in a disease process known as cerebral amyloid angiopathy, which damages arteries, veins and capillaries in the brain. In addition, the normal pathway by which fluid drains from the brain appeared to be blocked.
Their study, Dr. Chesebro says, indicates that prion diseases can be divided into two groups:
Dr. Chesebro says the presence or absence of the prion protein anchor appears to determine which form of disease develops.
The new mouse model used in the study and the two new human GSS cases, which also lack the usual prion protein cell anchor, are the first to show that in prion diseases, the plaque-associated damage to blood vessels can occur without the sponge-like damage to the brain. If scientists can find an inhibitor for the new form of prion disease, they might be able to use the same inhibitor to treat similar types of damage in Alzheimer’s disease, Dr. Chesebro says.
Source: NIH News
