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Appistry unveils latest version of Broad Institute’s Genome Analysis Toolkit

Appistry, Inc., a leading provider of high-performance computing and analytics solutions for next-generation medicine, today released the latest commercial version of the Broad Institute's Genome Analysis Toolkit (GATK).

3 Apr 2014

Stowers team reports genome-wide analysis of genes that drive cell division in multicellular organism

In textbooks, the grand-finale of cell division is the tug-of-war fought inside dividing cells as duplicated pairs of chromosomes get dragged in opposite directions into daughter cells.

3 Apr 2014

Researchers generate high-resolution blueprint for how to build human brain

Researchers at the Allen Institute for Brain Science have generated a high-resolution blueprint for how to build a human brain, with a detailed map of where different genes are turned on and off during mid-pregnancy at unprecedented anatomical resolution.

3 Apr 2014

UM researchers awarded FDA contract to expand high-throughput sequencing database

Researchers at the Institute for Genome Sciences at the University of Maryland School of Medicine have been awarded a research program contract from the U.S. Food and Drug Administration (FDA) to sequence, assemble, and annotate a population of bacterial pathogens using two high-throughput sequencing (HTS) technologies in support of the expansion of a vetted public reference database.

2 Apr 2014

EPFL scientists develop computer tool to identify mutations that make influenza resistant to Tamiflu

Tamiflu is one of the few available treatments for those who come down with the flu. But the virus quickly develops resistance; multiplying at a rate of several generations a day, these tiny pathogens rapidly accumulate genetic mutations. Because of this, they have a good chance of developing counterattacks to the antiviral. How can these infinitesimal variations be identified within the immensity of the virus' genetic code? EPFL researchers have created a computer tool that can shed light on the flu virus' formidable adaptability.

1 Apr 2014

New gene-editing system holds potential for treating many genetic disorders

Using a new gene-editing system based on bacterial proteins, MIT researchers have cured mice of a rare liver disorder caused by a single genetic mutation.

31 Mar 2014

Carb breakdown gene linked to obesity, researchers find

Researchers at King's College London and Imperial College London have discovered that people with fewer copies of a gene coding for a carb-digesting enzyme may be at higher risk of obesity. The findings, published in Nature Genetics, suggest that dietary advice may need to be more tailored to an individual's digestive system, based on whether they have the genetic predisposition and necessary enzymes to digest different foods.

31 Mar 2014

New high-risk cancer causing mutation identified for melanoma development

Researchers have discovered that mutations in a specific gene are responsible for a hereditary form of melanoma.

31 Mar 2014

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions?

29 Mar 2014

Two pediatricians win March of Dimes/Col. Harland D. Sanders Lifetime Achievement Award in Genetics

Two pediatricians whose research led to the need for early identification of and treatment of severe combined immunodeficiency (SCID) and its inclusion in newborn screening have received the March of Dimes/Col. Harland D. Sanders Lifetime Achievement Award in Genetics.

29 Mar 2014

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

IRCM researchers led by Javier M. Di Noia, PhD, uncovered a new function of AID, a crucial enzyme for the immune response. The discovery, recently published by the scientific journal Proceedings of the National Academy of Sciences, helps explain a rare genetic disorder that causes an immunodeficiency syndrome.

28 Mar 2014

Jackson Lab professor wins nearly $2M grant for investigating role of noncoding RNAs in cancer

The National Cancer Institute has awarded a three-year grant totaling $2,168,535 to Professor Yijun Ruan, Ph.D., of The Jackson Laboratory for Genomic Medicine, for his research into the role of noncoding RNAs in cancer and other diseases.

28 Mar 2014

New biomarker test accurately estimates mortality risk in patients with septicemia

Septic shock is a severe systemic infection and major cause of death for the old and young alike. Unfortunately, researchers say testing new drug regimens to stop the infection is confounded because clinical trials include patients who are either too sick to be saved by experimental therapies or not sick enough to warrant the treatments.

27 Mar 2014

Personalis and Inova team up to advance genomic medicine

Inova Translational Medicine Institute and Personalis, Inc. today announced a partnership to advance genomic medicine for Inova's patient population.

27 Mar 2014

Research pinpoints location of key genetic regulators in blood cells

Research published online today in Blood, the Journal of the American Society of Hematology, presents an unprecedented look at five unique blood cells in the human body, pinpointing the location of key genetic regulators in these cells and providing a new tool that may help scientists to identify how blood cells form and shed light on the etiology of blood diseases.

27 Mar 2014

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

Genome News and Research

Appistry unveils latest version of Broad Institute’s Genome Analysis Toolkit

Stowers team reports genome-wide analysis of genes that drive cell division in multicellular organism

Researchers generate high-resolution blueprint for how to build human brain

UM researchers awarded FDA contract to expand high-throughput sequencing database

EPFL scientists develop computer tool to identify mutations that make influenza resistant to Tamiflu

New gene-editing system holds potential for treating many genetic disorders

Carb breakdown gene linked to obesity, researchers find

New high-risk cancer causing mutation identified for melanoma development

Whole-genome sequencing in newborns could help detect, manage wide array of disorders

Two pediatricians win March of Dimes/Col. Harland D. Sanders Lifetime Achievement Award in Genetics

Research findings help explain rare genetic disorder that causes immunodeficiency syndrome

Jackson Lab professor wins nearly $2M grant for investigating role of noncoding RNAs in cancer

New biomarker test accurately estimates mortality risk in patients with septicemia

Personalis and Inova team up to advance genomic medicine

Research pinpoints location of key genetic regulators in blood cells

Researchers to discuss implications of genomic sequencing at ACMG meeting

Researchers release first comprehensive atlas of human gene expression

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

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

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

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