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UBE3B gene linked to brain development disorder in children

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this gene, UBE3B, has been linked to a disease.

30 Nov 2012

Study shows how PTPN22 variant linked with T1D influences susceptibility to autoimmunity

As part of their ongoing research on the role of genes in the development of type 1 diabetes, Joslin Diabetes Center scientists, in collaboration with scientists at the University of Würzburg, have demonstrated how a genetic variant associated with type 1 diabetes and other autoimmune diseases influences susceptibility to autoimmunity. The findings appear in the upcoming issue of Diabetes.

29 Nov 2012

Combination of blood test and whole-genome sequencing technology could screen cancers

Scientists at the Johns Hopkins Kimmel Cancer Center have combined the ability to detect cancer DNA in the blood with genome sequencing technology in a test that could be used to screen for cancers, monitor cancer patients for recurrence and find residual cancer left after surgery.

29 Nov 2012

New antifungal drugs could be developed based on substance bacteria use to decompose mushrooms

Soft rot diseases cause a great deal of damage in agriculture, and turn fruits, vegetables, and mushrooms to mush. By using imaging mass spectrometry together with genetic and bioinformatic techniques (genome mining), German researchers have now discovered the substance the bacteria use to decompose mushrooms.

29 Nov 2012

Blood test and gene sequencing combined to detect cancer

29 Nov 2012

THI to launch saliva-based TeloTest in first quarter 2013

Telome Health, Inc. (THI), developer of the TeloTest diagnostic test that measures average telomere length, announces the planned launch of the saliva-based TeloTest in the first quarter of 2013. Related telomere tests, including percentage of short telomeres, would follow.

28 Nov 2012

Big pharma and federal government predicted to play diminishing role in research funding

In a commentary to be published in the Dec. 12 issue of The Journal of the American Medical Association, two Johns Hopkins faculty members predict an ever-diminishing role for government and drug company funding of basic biomedical research and suggest scientists look to “innovative” kinds of private investment for future resources.

27 Nov 2012

New combinations of medical imaging technologies hold promise for personalized medicine

New combinations of medical imaging technologies hold promise for improved early disease screening, cancer staging, therapeutic assessment, and other aspects of personalized medicine, according to Ge Wang, director of Virginia Tech's Center for Biomedical Imaging, in a recent paper that appeared in the refereed journal PLoS One.

27 Nov 2012

Max Planck scientists identify unknown proteins of the herpesvirus

The genome encodes the complete information needed by an organism, including that required for protein production. Viruses, which are up to a thousand times smaller than human cells, have considerably smaller genomes. Using a type of herpesvirus as a model system, the scientists of the Max Planck Institute of Biochemistry in Martinsried near Munich and their collaboration partners at the University of California in San Francisco have shown that the genome of this virus contains much more information than previously assumed.

26 Nov 2012

Research reveals surprisingly complex protein-coding capacity of human cytomegalovirus

New findings reveal the surprisingly complex protein-coding capacity of the human cytomegalovirus, or HCMV, and provide the first steps toward understanding how the virus manipulates human cells during infection. The genome of the HCMV was first sequenced over 20 years ago, but researchers have now investigated the proteome-the complete set of expressed proteins-of this common pathogen as well.

23 Nov 2012

Major advance in understanding how flu viruses replicate within infected cells

Scientists at The Scripps Research Institute (TSRI) have made a major advance in understanding how flu viruses replicate within infected cells. The researchers used cutting-edge molecular biology and electron-microscopy techniques to "see" one of influenza's essential protein complexes in unprecedented detail. The images generated in the study show flu virus proteins in the act of self-replication, highlighting the virus's vulnerabilities that are sure to be of interest to drug developers.

23 Nov 2012

Advances in genomic techniques help understand cancer at cellular and molecular level

Cancer is a complex disease and only thanks to advances in genomic techniques have researchers begun to understand, at a cellular and molecular level, the mechanisms which are disrupted in cancer cells. This knowledge is a key prerequisite for developing effective treatment strategies.

23 Nov 2012

New research provides unprecedented clarity to aging process

For the first time, scientists at Fred Hutchinson Cancer Research Center have defined key events that take place early in the process of cellular aging.

23 Nov 2012

Methylome modifications offer new measure of a person's biological age

Women live longer than men. Individuals can appear or feel years younger - or older - than their chronological age. Diseases can affect our aging process. When it comes to biology, our clocks clearly tick differently.

22 Nov 2012

Scientists discover telomerase as cause of chronic inflammation in human cancers

A*STAR scientists have identified the enzyme, telomerase, as a cause of chronic inflammation in human cancers. Chronic inflammation is now recognized as a key underlying cause for the development of many human cancers, autoimmune disorders, neurodegenerative diseases, and metabolic diseases such as diabetes.

22 Nov 2012

Walter and Eliza Hall Institute researcher wins 2012 Victoria Prize for Science and Innovation

Professor Terry Speed, a senior researcher at the Walter and Eliza Hall Institute of Medical Research, was today awarded a 2012 Victoria Prize for Science and Innovation.

22 Nov 2012

Study provides new insight into human cognitive function and risk for neurological diseases

Short snippets of DNA found in human brain tissue provide new insight into human cognitive function and risk for developing certain neurological diseases, according to researchers from the Departments of Psychiatry and Neuroscience at Mount Sinai School of Medicine. The findings are published in the November 20th issue of PLoS Biology.

22 Nov 2012

Genetic study: Novel coronavirus most closely related to viruses in bats

The virus that is causing alarm among global public health authorities after it killed a man in Jeddah, Saudi Arabia earlier this year and is now linked to two other cases of disease is a novel type of coronavirus most closely related to viruses found in bats, according to a genetic analysis to be published in mBio-, the online open-access journal of the American Society for Microbiology, on November 20.

22 Nov 2012

Discovery of DKK1-WNT pathway reveals new drug targets for Alzheimer's

The discovery of the molecular pathway that drives the changes seen in the brains of Alzheimer's patients is reported today, revealing new targets for drug discovery that could be exploited to combat the disease. The study gives the most detailed understanding yet of the complex processes leading to Alzheimer's.

21 Nov 2012

Scientists identify two genetic risk factors for sagittal craniosynostosis

Seattle Children's Research Institute, together with an international team of scientists and clinicians from 22 other institutions, have identified two genetic risk factors for the most common form of non-syndromic craniosynostosis, a birth defect in which the bony plates of an infant's skull prematurely fuse. The condition is known as sagittal craniosynostosis and often results in an abnormal head shape and facial features.

20 Nov 2012

Genome News and Research

UBE3B gene linked to brain development disorder in children

Study shows how PTPN22 variant linked with T1D influences susceptibility to autoimmunity

Combination of blood test and whole-genome sequencing technology could screen cancers

New antifungal drugs could be developed based on substance bacteria use to decompose mushrooms

Blood test and gene sequencing combined to detect cancer

THI to launch saliva-based TeloTest in first quarter 2013

Big pharma and federal government predicted to play diminishing role in research funding

New combinations of medical imaging technologies hold promise for personalized medicine

Max Planck scientists identify unknown proteins of the herpesvirus

Research reveals surprisingly complex protein-coding capacity of human cytomegalovirus

Major advance in understanding how flu viruses replicate within infected cells

Advances in genomic techniques help understand cancer at cellular and molecular level

New research provides unprecedented clarity to aging process

Methylome modifications offer new measure of a person's biological age

Scientists discover telomerase as cause of chronic inflammation in human cancers

Walter and Eliza Hall Institute researcher wins 2012 Victoria Prize for Science and Innovation

Study provides new insight into human cognitive function and risk for neurological diseases

Genetic study: Novel coronavirus most closely related to viruses in bats

Discovery of DKK1-WNT pathway reveals new drug targets for Alzheimer's

Scientists identify two genetic risk factors for sagittal craniosynostosis

Genetics & Genomics - Second Edition eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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