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Researchers to discuss implications of genomic sequencing at ACMG meeting

Researchers from the Mayo Clinic Center for Individualized Medicine will present results of three different studies evaluating implications and feasibility of genome sequencing at the ACMG Annual Clinical Genetics Meeting this week in Nashville, Tenn.

27 Mar 2014

Researchers release first comprehensive atlas of human gene expression

A large international consortium of researchers has produced the first comprehensive, detailed map of the way genes work across the major cells and tissues of the human body. The findings describe the complex networks that govern gene activity, and the new information could play a crucial role in identifying the genes involved with disease.

27 Mar 2014

UMass Medical School students win 2014 Harold M. Weintraub Graduate Student Award

Colin Conine and Emma Watson, PhD students in the Graduate School of Biomedical Sciences (GSBS) at the University of Massachusetts Medical School, received the 2014 Harold M. Weintraub Graduate Student Award for research into the mechanisms governing epigenetic inheritance and the complex interactions between diet, gene expression and physiology.

26 Mar 2014

Scientists discover why cerebellar granule cell neurons in A-T patients fail to repair DNA damage

A team of scientists, led by Stuart Lipton, M.D., Ph.D., professor and director of the Neuroscience and Aging Research Center at Sanford-Burnham Medical Research Institute, recently discovered why cerebellar granule cell neurons in patients suffering from ataxia-telangiectasia (A-T) were unable to repair DNA damage and thus died.

26 Mar 2014

MIT biological engineers trying to adapt MRI to visualize gene activity inside the brains of living animals

Doctors commonly use magnetic resonance imaging (MRI) to diagnose tumors, damage from stroke, and many other medical conditions. Neuroscientists also rely on it as a research tool for identifying parts of the brain that carry out different cognitive functions.

26 Mar 2014

Researchers develop mathematical model that provides insights about molecular mechanisms behind virus assembly

Mathematicians at the University of York have joined forces with experimentalists at the University of Leeds to take an important step in discovering how viruses make new copies of themselves during an infection.

25 Mar 2014

Study suggest that women are resistant to mutations that contribute to autism

It takes more mutations to trigger autism in women than in men, which may explain why men are four times more likely to have the disorder, according to a study published 26 February in the American Journal of Human Genetics1.

25 Mar 2014

CSP analogues may attenuate S. pneumoniae virulence, resistance

The spread of virulent, antibiotic-resistant strains of Streptococcus pneumoniae may be controllable through the use of competence-stimulating peptide analogues, US researchers believe.

24 Mar 2014

DUF1220 protein domain also linked to severity of autism

The same gene family that may have helped the human brain become larger and more complex than in any other animal also is linked to the severity of autism, according to new research from the University of Colorado Anschutz Medical Campus.

24 Mar 2014

CUMC researchers devise new system for classifying periodontal disease

Researchers at Columbia University Medical Center have devised a new system for classifying periodontal disease based on the genetic signature of affected tissue, rather than on clinical signs and symptoms. The new classification system, the first of its kind, may allow for earlier detection and more individualized treatment of severe periodontitis, before loss of teeth and supportive bone occurs.

24 Mar 2014

Rare abnormality in chromosomes increases risk of rare childhood leukaemia

Researchers have found that people born with a rare abnormality of their chromosomes have a 2,700-fold increased risk of a rare childhood leukaemia. In this abnormality, two specific chromosomes are fused together but become prone to catastrophic shattering.

24 Mar 2014

Scientists explore link between SCN10A and cardiac arrhythmia risk

Although genome-wide association studies have linked DNA variants in the gene SCN10A with increased risk for cardiac arrhythmia, efforts to determine the gene's direct influence on the heart's electrical activity have been unproductive. Now, scientists from the University of Chicago have discovered that these SCN10A variants regulate the function of a different gene, SCN5A, which appears to be the primary gene responsible for cardiac arrhythmia risk.

21 Mar 2014

Researchers identify steps by which cell removes RNA from cytoplasm

RNA encodes the proteins that play a key role in cellular reproduction, but the manner in which cells regulate its removal once these proteins are synthesized remains a mystery. One piece of this mystery has been solved as researchers at the University of North Carolina at Chapel Hill who have identified the steps by which a cell removes RNA from the cytoplasm.

21 Mar 2014

Researchers identify genetic defect that causes a subset of irritable bowel syndrome

Is irritable bowel syndrome (IBS) caused by genetics, diet, past trauma, anxiety? All are thought to play a role, but now, for the first time, researchers have reported a defined genetic defect that causes a subset of IBS. The research was published in the journal Gastroenterology.

21 Mar 2014

New tool pinpoints genetic sources of disease

Many diseases are the result of either variations in the genome or reversible chemical changes to DNA, known as the epigenome. New data obtained by Johns Hopkins scientists show a connection between genetic variants and epigenetic information.

20 Mar 2014

Preterm babies' guts harbor infectious microbes that can cause late-onset sepsis

Babies born prematurely are surviving in increasing numbers. But many withstand complications of early birth only to suffer late-onset sepsis - life-threatening bloodstream infections that strike after infants reach 72 hours of age.

20 Mar 2014

Scientists describe gut bacteria that cause sepsis in preterm infants

Researchers studying intestinal bacteria in newborns have characterized the gut bacteria of premature infants who go on to develop sepsis, a serious and potentially life-threatening condition caused by bacteria in the bloodstream.

19 Mar 2014

Two new risk loci for bipolar disorder identified

Researchers have found two new risk loci for bipolar disorder in a genome-wide association study of 2.3 million single-nucleotide polymorphisms.

19 Mar 2014

Restless legs syndrome alters expression of critical gene during fetal development of brain

In a study published online in Genome Research, researchers of the Helmholtz Zentrum München und the Technische Universität München have demonstrated that a common genetic variant associated with Restless Legs Syndrome (RLS) alters the expression of a critical gene during fetal development of the brain.

19 Mar 2014

USTAR Center for Genetic Discovery to integrate genome data with patient care

The USTAR Center for Genetic Discovery is partnering with California based Omicia, Inc, to make analyzing a patient's genome as routine as performing a blood test.

19 Mar 2014