Emory Report
June 25, 2007
Volume 59, Number 33

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June 25, 2007
Scholarship & Research roundup

From staff reports

NIH awards Emory $3.6 million for schizophrenia gene research
The National Institute of Mental Health of the National Institutes of Health has awarded Emory School of Medicine a $3.6 million research grant to test schizophrenic patients for a recently discovered variation in the human genome. The project is led by Stephen Warren, Timmie Professor and chair of the Department of Human Genetics.

Recently, scientists have discovered an entirely new and previously unknown form of variation in the human genome, called “copy number variation.” This variation includes deletions and duplications of segments of DNA previously unrecognized in the general population. Scientists now believe every individual may carry as many as 100 CNVs. While these variations generally do not cause disease on their own, said Warren, in combination with other genetic changes and/or environmental factors they may well contribute to one’s overall risk of disease.

Using cutting-edge technology — “DNA chips,” manufactured by NimbleGen Systems Inc. — the Emory project will screen a collection of 500 schizophrenic patients and 500 individuals without schizophrenia for CNV throughout the entire human genome. Scientists can array 2.1 million locations in the genome on a single chip. The project team will use the new Emory high performance computer cluster to analyze the data.
“By helping us identify CNVs, we believe this new kind of chip technology may lead us to the specific genes that influence schizophrenia and other major psychiatric diseases,” said Warren.

Common genetic variation linked to substantial risk in heart attack
A common genetic variation on chromosome 9p21 is linked to a substantial increase in risk for heart attack, according to a new international research study published in Science.

Researchers found individuals with the variation have a 1.64-fold greater risk of suffering a heart attack and a 2.02-fold greater risk of suffering a heart attack early in life than those without the variation. Approximately 21 percent of individuals of European descent carry two copies of the genetic variation, found on chromosome 9p21.

The study led by deCODE Genetics along with Emory, Duke and the University of Pennsylvania, uncovered the first common variant found to be consistently linked to substantial risk of heart attack in multiple case-control groups of European descent.

“The gene variant we have linked to heart attack points us to a major biological mechanism that substantially increases the risk,” said Emory cardiologist Arshed Quyyumi, one of the study authors.

Quantum dot nanotechnology reaches clinical lab
Bioconjugated quantum dots — luminescent nanoparticles linked to biological molecules — have shown great promise as tools for disease diagnosis and treatment, but their medical use has been limited by the lack of specific instructions for clinicians. Now, new clinical protocols detailing how to prepare, process and quantify these tiny particles will arm laboratory physicians with the information they need to track biomarkers in cells and tissues. The new research guidelines and results were published in the May 3, 2007, issue of Nature Protocols.

Using prostate cancer specimens, researchers at Emory and the Georgia Institute of Technology have confirmed that bioconjugated quantum dots are effective in simultaneously identifying multiple molecular biomarkers in cancer tissue. The technology is a variation of immunohistochemistry, the laboratory staining process commonly used by pathologists to identify proteins in a tissue section from a cancer patient.

The scientists developed detailed protocols for using the technology, including antibody conjugation, preparation of tissue specimens, multicolor quantum staining, image processing and biomarker quantification, as well as bioinformatics and software tools.

New DNA tests advance treatment of lysosomal storage diseases
A new set of laboratory tests using gene sequencing is able to help confirm 24 lysosomal storage diseases, providing physicians and patients the tools for more accurate and rapid diagnosis. Lysosomal storage diseases are a group of more than 40 inherited and potentially life-threatening disorders that cause enzymes to malfunction in cellular compartments called lysosomes. This leads to the accumulation of waste products that damage organs and tissues.

Emory’s Genetics Laboratory, which developed the gene sequencing tests, offers the most comprehensive list of sequencing tests in the United States for lysosomal storage diseases, according to genetics counselor Vanessa Rangel Miller. For more information, visit www.geneticslab.emory.edu.