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Vol. LXIII, No. 2
January 21, 2011

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Microfluidic Device of NIBIB Grantees Moves Toward Clinical Applications

NIBIB grantees Dr. Mehmet Toner (l) and Daniel Haber of Massachusetts General Hospital are co-primary investigators of the NIBIB HB-Chip Quantum Grant.
NIBIB grantees Dr. Mehmet Toner (l) and Daniel Haber of Massachusetts General Hospital are co-primary investigators of the NIBIB HB-Chip Quantum Grant.

NIBIB “Quantum Grant” investigators at Massachusetts General Hospital have successfully developed a test capable of detecting a single cancer cell among the billions of normal cells in a simple blood sample. Four leading cancer centers will start studies using the experimental test later this year to study different cancers.

The microchip device, known as the HB-Chip, enables the isolation of tumor cells that are circulating in the bloodstream; subsequent characterization can potentially determine the type, severity and aggressiveness of a wide range of cancers. Detecting the presence of these tumor cells in blood samples is analogous to a “liquid biopsy” of the most critical of cancer cells—those that are in the process of spreading via the bloodstream. Their presence signals early events leading to metastasis and also serves as a monitor for treatment efficacy. The device has the potential to revolutionize the management of care in cancer patients.

Importantly, this technology will enable the characterization of subtypes of cancer based on their molecular signatures. Doctors typically give a drug or radiation treatment and then do a CT scan several months later to look for tumor shrinkage. A test that can gauge success or failure rapidly, through simple monitoring of cancer cells in the blood, could dramatically improve patients’ options for the identification of a successful therapy. Scientists now recognize that many cancers such as breast, prostate or lung cancers are not monolithic diseases. There are distinct subtypes that may require targeted, personalized treatment that can adapt over time.

NIH-Led Study Identifies Genetic Variant That Can Lead to Severe Impulsivity

A multinational research team led by scientists at NIH has found that a genetic variant of a brain receptor molecule may contribute to violently impulsive behavior when people who carry it are under the influence of alcohol. A report of the findings, which include human genetic analyses and gene knockout studies in animals, appeared in the Dec. 23 issue of Nature.

“Impulsivity, or action without foresight, is a factor in many pathological behaviors including suicide, aggression and addiction,” said senior author Dr. David Goldman, chief of the Laboratory of Neurogenetics, NIAAA. “But it is also a trait that can be of value if a quick decision must be made or in situations where risk-taking is favored.”

In collaboration with researchers in Finland and France, Goldman and colleagues studied a sample of violent criminal offenders in Finland. The hallmark of the violent crimes committed by individuals in the study sample was that they were spontaneous and purposeless.

“We conducted this study in Finland because of its unique population history and medical genetics,” Goldman explained. “Modern Finns are descended from a relatively small number of original settlers, which has reduced the genetic complexity of diseases in that country. Studying the genetics of violent criminal offenders within Finland increased our chances of finding genes that influence impulsive behavior.”

Scientists Reveal How Biological Activity is Regulated in Fruit Fly, Roundworm Genomes

Scientists recently published catalogs of the fruit fly and roundworm’s functional genomic elements: DNA sequences in the genome that carry the instructions and determine which genes are turned on and off at various times in different cells.

Initially sequenced as part of the Human Genome Project, the genomes of the fruit fly and the roundworm are powerful models for understanding human biology and disease, as many functional genomic elements have been conserved across the vast evolutionary distances separating each organism. Scientists can now study functional genomic elements in the fruit fly and roundworm that are also present in humans to better understand how the human genome works in health and disease.

“These findings will enable scientists everywhere to carry out experiments in fruit flies and roundworms to better understand the relationship between molecular and biological activities in these animals,” said NHGRI director Dr. Eric Green. “What we learn from these model organisms will contribute greatly to our understanding about the genomic basis of health and disease in humans.”

The papers reporting these new findings appeared in the Dec. 24 issue of Science and are authored by members of the model organism ENCyclopedia Of DNA Elements (modENCODE) Consortium, which is funded by NHGRI.

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