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Science journal’s NEWSFOCUS section describes recent advances in sequencing technology

Rapid DNA sequencing may soon become a routine part of each individual's medical record, providing enormous information previously sequestered in the human genome's 3 billion nucleotide bases. This week's NEWSFOCUS section of the journal Science describes recent advances in sequencing technology.

From Oxford Nanopore Technologies 23 May 2012

Special feature of Science journal highlights protein array technology

A special feature in this week's issue of the journal Science highlights protein array technology, touching on research conducted by Joshua LaBaer, director of the Biodesign Institute's Virginia G. Piper Center for Personalized Diagnostics.

23 May 2012

Inexpensive sleep disorder drug appears to be potent inhibitor of cancer cells

An inexpensive "orphan drug" used to treat sleep disorders appears to be a potent inhibitor of cancer cells, according to a new study led by scientists at Fred Hutchinson Cancer Research Center.

22 May 2012

First insight into links between microbes and developing infant

A new multi-university study reports that differences in bacterial colonization of the infant gut in formula-fed and breast-fed babies lead to changes in the expression of genes involved in the infant's immune system.

22 May 2012

Study uncovers distinct subtype of prostate cancer

A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical College, the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute.

21 May 2012

Study uncovers mechanism by which Notch pathway could contribute to RA

A new study led by researchers at Hospital for Special Surgery identifies the mechanism by which a cell signaling pathway contributes to the development of rheumatoid arthritis (RA). In addition, the study provides evidence that drugs under development for diseases such as cancer could potentially be used to treat RA.

21 May 2012

Large survey of genetic variation offers insights into human diseases

A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.

19 May 2012

Personal genetic test results does not drive overuse of expensive medical care

People have increasing opportunities to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up or diminish test recipients' demand for potentially costly follow-up health services, according to a study performed by researchers at the National Institutes of Health and colleagues at other institutions.

19 May 2012

Rare DNA variations may be responsible for differences in susceptibility to common disorders

One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and evolutionary biologists report in the May 17 advanced online edition of Science.

19 May 2012

Promising updates in quest for early detection and treatments for lung cancer

LUNGevity Foundation, the nation's largest lung cancer-focused nonprofit, is pleased to note promising updates in researchers' quest for early detection and treatments for lung cancer during May, Lung Cancer Hope Month.

18 May 2012

Personal genetic test results don't drive overuse of expensive medical care

People have more and more chances to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up- or diminish-test recipients' demand for potentially costly follow-up health services, according to a new study in the May 17, 2012 early online issue of Genetics in Medicine.

18 May 2012

Researchers identify novel base modification in RNA

Over the past decade, research in the field of epigenetics has revealed that chemically modified bases are abundant components of the human genome and has forced us to abandon the notion we've had since high school genetics that DNA consists of only four bases.

18 May 2012

Researchers sequence genomes of 21 breast cancers

In two back-to-back reports published online on 17 May in Cell, researchers have sequenced the genomes of 21 breast cancers and analysed the mutations that emerged during the tumours' development. The individual results are described below.

18 May 2012

Researchers identify 57 SNPs associated with autism

By focusing on the identification of common genetic variants, researchers have identified 57 single nucleotide polymorphisms (SNPs) that predict-with a high degree of certainty--the risk that siblings of children with Autism Spectrum Disorder (ASD) will also develop the condition. The findings were presented at the International Meeting for Autism Research.

18 May 2012

Nottingham researchers lead largest ever research project into genetics of pre-eclampsia

Researchers from The University of Nottingham are leading the largest ever international research project into the genetics of the potentially fatal condition pre-eclampsia.

17 May 2012

Scientists identify and prioritize genes associated with schizophrenia

An Indiana University-led research team, along with a group of national and international collaborators, has identified and prioritized a comprehensive group of genes most associated with schizophrenia that together can generate a score indicating whether an individual is at higher or lower risk of developing the disease.

16 May 2012

Study identifies biomarkers that can predict recurrence of prostate cancer

Alterations to the "on-off" switches of genes occur early in the development of prostate cancer and could be used as biomarkers to detect the disease months or even years earlier than current approaches, a Mayo Clinic study has found.

15 May 2012

Microbiome of young men depends upon circumcision status, patterns of sexual activity

The first study using cultivation independent sequencing of the microorganisms in the adolescent male urinary tract has revealed that the composition of microbial communities colonizing the penis in young men depends upon their circumcision status and patterns of sexual activity.

15 May 2012

Energy-efficient LED devices use UV light to kill pathogens

Research from North Carolina State University will allow the development of energy-efficient LED devices that use ultraviolet (UV) light to kill pathogens such as bacteria and viruses. The technology has a wide array of applications ranging from drinking-water treatment to sterilizing surgical tools.

14 May 2012

Genetic cause of rare genetic disorder, Hamamy syndrome

Scientists at A*STAR's Institute of Medical Biology (IMB), in collaboration with doctors and scientists in Jordan, Turkey, Switzerland and USA, have identified the genetic cause of a birth defect known as Hamamy syndrome .

14 May 2012