1000 Genomes Project Publishes Analysis of Completed Pilot Phase

Small genetic differences between individuals help explain why some people have a higher risk than others for developing illnesses such as diabetes or cancer. Recently in the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.

NIH Study Reveals a Genetic Basis for Stuttering

ResearchBlogging.org

Although the root cause(s) of stuttering remain unknown, evidence has accumulated from twin and adoption studies that genetics plays a role. Dennis Drayna, a geneticist at the National Institute on Deafness and other Communication Disorders (NIDCD), undertook a study to identify the genes involved in the disorder with the ultimate goal to elucidate poorly defined neural structures and functions regulating human speech. Results from the study were reported recently in the New England Journal of Medicine [1].

Stuttering

The study focused on a Pakistani family in whom previous work had determined that stuttering was linked to the long arm of chromosome 12 (chromosome 12q). In addition to the affected and unaffected members of these families, the study also included 123 Pakistani stutterers who were unrelated and 270 stutterers from the United States and England. Children under the age of eight were excluded, as they often recover from stuttering, as were people with neurologic or psychiatric symptoms. The control group (non-stutterers) consisted of 96 Pakistanis and 276 North American whites.

Chromosome arms: All human chromosomes have 2 arms — a short arm and a long arm — that are separated from each other by the centromere, the point at which the chromosome is attached to the spindle, a cytoskeletal structure in¬†eukaryotic cells,¬†during cell division. The short arm is termed the “p arm” while the long arm of the chromosome is termed the “q arm.”

NIH Announces Genetic Testing Registry

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:

  • Encourage providers of genetic tests to enhance transparency by publicly sharing information about the availability and utility of their tests
  • Provide an information resource for the public, including researchers, health care providers and patients, to locate laboratories that offer particular tests
  • Facilitate genomic data-sharing for research and new scientific discoveries

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

NIH Scientists Identify Maternal and Fetal Genes That Increase Preterm Birth Risk

Researchers at the National Institutes of Health have identified DNA variants in mothers and fetuses that appear to increase the risk for preterm labor and delivery. The DNA variants were in genes involved in the regulation of inflammation and of the extracellular matrix, the mesh-like material that holds cells within tissues.

“A substantial body of scientific evidence indicates that inflammatory hormones may play a significant role in the labor process,” said Alan E. Guttmacher, M.D., acting director of the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). “The current findings add evidence that individual genetic variation in that response may account for why preterm labor occurs in some pregnancies and not in others.”

Diet May Protect Against Gene Changes in Smokers

Leafy green vegetables, folate, and some multivitamins could serve as protective factors against lung cancer in current and former smokers, according to a study that is a first step in understanding a complex association. The study was supported by the National Cancer Institute (NCI), part of the National Institutes of Health. The study appeared online Jan. 12, 2010, in Cancer Research.