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Real-time blood test based on DNA sequencing can rapidly diagnose Ebola and other acute infections

Using technical advances not yet developed when the 2014 Ebola outbreak began, UC San Francisco-led scientists completed a proof-of-principle study on a real-time blood test based on DNA sequencing that can be used to rapidly diagnose Ebola and other acute infections. The researchers said that the test can be used even where lab space and medical infrastructure are scarce.

From Oxford Nanopore Technologies 29 Sep 2015

UK Biobank genetic study shows link between lung disease and smoking behaviour

New research published in The Lancet Respiratory Medicine and presented at this year's European Respiratory Society meeting in Amsterdam presents the first analyses of genetic data from the UK Biobank that reveal new associations with lung disease and smoking behaviour.

28 Sep 2015

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

A few years ago, Javier Benítez, director of the Human Genetics Group at the CNIO, received a call from Pablo García Pavía, from the Cardiology Unit of the Puerta de Hierro University Hospital. This cardiologist was treating two brothers with a rare form of cancer, cardiac angiosarcoma (CAS).

26 Sep 2015

New report sets out plans to improve cure rate, quality of life for childhood cancer survivors in Europe

Each year in Europe, 6,000 young people die from cancer, and two-thirds of those who survive suffer from treatment-related side effects. Although there has been considerable progress in the treatment of childhood cancers over the past few decades, and cancer in childhood is rare, these are major problems that need to be overcome, says a report from SIOPE, the European Society for Paediatric Oncology, launched at the 2015 European Cancer Congress today.

26 Sep 2015

Comprehensive collection of human genomic variants now available in Kaviar database

The Institute for Systems Biology (ISB) and the Inova Translational Medicine Institute (ITMI) announced today a new release of Kaviar, the most comprehensive collection of human genomic variants currently available to the public.

26 Sep 2015

Scientists identify different CRISPR system with potential to advance genetic engineering

A team including the scientist who first harnessed the revolutionary CRISPR-Cas9 system for mammalian genome editing has now identified a different CRISPR system with the potential for even simpler and more precise genome engineering.

26 Sep 2015

H7N9 influenza vaccine failure may be due to immune camouflage, study reveals

The avian influenza A (H7N9) virus has been a major concern since the first outbreak in China in 2013. Due to its high rate of lethality and pandemic potential, H7N9 vaccine development has become a priority for public health officials. However, candidate vaccines have failed to elicit the strong immune responses necessary to protect from infection.

25 Sep 2015

Scientists compile complete genetic information of people affected by PAH

The genetic architecture of a debilitating and potentially fatal vascular disease has for the first time been detailed in its entirety, providing clinicians with the comprehensive data needed to improve diagnosis and deliver more personalised patient care.

25 Sep 2015

Discovery opens door to more targeted, effective treatments for cancer

In a discovery that could lead to more targeted and effective treatments for certain lung and prostate cancers, researchers at the University of Virginia School of Medicine have identified two new cancer-causing gene mutations - mutations that may be particularly susceptible to cancer-fighting drugs already approved by the federal Food and Drug Administration. One of the gene mutations also may play a key role in early menopause.

24 Sep 2015

Study uses genome- and epigenome-editing tools to determine disease-causing variants

A paper receiving advance online release in Nature Medicine describes a strategy for meeting one of today's most significant challenges in genomic medicine - determining whether a specific DNA variant in the non-protein-coding genome is the actual disease-causing variant of an associated disease risk.

24 Sep 2015

MIT researchers devise new system to genetically engineer viruses to combat harmful bacteria

In the hunt for new ways to kill harmful bacteria, scientists have turned to a natural predator: viruses that infect bacteria. By tweaking the genomes of these viruses, known as bacteriophages, researchers hope to customize them to target any type of pathogenic bacteria.

23 Sep 2015

New analysis shows rare gene mutations cause half of all ASD cases

A team led by researchers at Cold Spring Harbor Laboratory (CSHL) this week publishes in PNAS a new analysis of data on the genetics of autism spectrum disorder (ASD).

23 Sep 2015

Researchers receive NIH grants to find genomic regions containing variants that affect disease risk

Six new grants from the National Institutes of Health will support researchers to develop new computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits.

23 Sep 2015

Prashant Mahajan awarded $5.76 million grant to study how febrile infants can avoid invasive procedures

Prashant Mahajan, M.D., professor of Pediatrics and Emergency Medicine, chief of the Division of Emergency Medicine in the Department of Pediatrics at Wayne State University and Children's Hospital of Michigan, has been awarded a five-year, $5.76 million grant (1R01HD085233) by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health.

23 Sep 2015

Mayo Clinic's Gianrico Farrugia highlights five areas that may impact patient care

How is individualized medicine working? Let us count the ways. That's just what Mayo Clinic Vice President Gianrico Farrugia, M.D., did this morning in his opening keynote at the 4th annual Individualizing Medicine Conference. The core of his talk highlighted five areas in which the knowledge and know-how from the human genome will be most impactful in patient care, not just at Mayo Clinic, but anywhere in the nation and globally.

23 Sep 2015

UCI scientists find potential biomarker for diagnosing certain forms of autism

By identifying a key signaling defect within a specific membrane structure in all cells, University of California, Irvine researchers believe, they have found both a possible reliable biomarker for diagnosing certain forms of autism and a potential therapeutic target.

22 Sep 2015

Scientists uncover how embryonic stem cells inhibit virus expression

Scientists from the Institute of Molecular and Cell Biology, a research institute under the Agency for Science, Technology and Research, Singapore, have uncovered the mechanisms which embryonic stem cells employ to inhibit virus expression.

22 Sep 2015

Using deep learning to analyze genetic mutations: an interview with Brendan Frey

To understand deep learning in the context of genetic disease, you need to understand shallow learning first. Shallow learning relates mutations to diseases by looking for mutations that commonly occur in patients with a disease. It’s a commonly used method.

21 Sep 2015

Artificial intelligence may improve outcomes in breast cancer patients

Western University researchers are working on a way to use artificial intelligence to predict a patient's response to two common chemotherapy medications used to treat breast cancer - paclitaxel and gemcitabine.

19 Sep 2015

UCPH, Beckman Coulter Genomics identify effects of cancer on protein signaling networks within human cells

Studies published of early results of the strategic collaboration between Beckman Coulter Genomics and Linding Lab at UCPH.

From Beckman Coulter Life Sciences - Automation and Genomics 18 Sep 2015

Genome News and Research

Real-time blood test based on DNA sequencing can rapidly diagnose Ebola and other acute infections

UK Biobank genetic study shows link between lung disease and smoking behaviour

Researchers find mutated gene responsible for cardiac angiosarcoma in two brothers

New report sets out plans to improve cure rate, quality of life for childhood cancer survivors in Europe

Comprehensive collection of human genomic variants now available in Kaviar database

Scientists identify different CRISPR system with potential to advance genetic engineering

H7N9 influenza vaccine failure may be due to immune camouflage, study reveals

Scientists compile complete genetic information of people affected by PAH

Discovery opens door to more targeted, effective treatments for cancer

Study uses genome- and epigenome-editing tools to determine disease-causing variants

MIT researchers devise new system to genetically engineer viruses to combat harmful bacteria

New analysis shows rare gene mutations cause half of all ASD cases

Researchers receive NIH grants to find genomic regions containing variants that affect disease risk

Prashant Mahajan awarded $5.76 million grant to study how febrile infants can avoid invasive procedures

Mayo Clinic's Gianrico Farrugia highlights five areas that may impact patient care

UCI scientists find potential biomarker for diagnosing certain forms of autism

Scientists uncover how embryonic stem cells inhibit virus expression

Using deep learning to analyze genetic mutations: an interview with Brendan Frey

Artificial intelligence may improve outcomes in breast cancer patients

UCPH, Beckman Coulter Genomics identify effects of cancer on protein signaling networks within human cells

Genetics & Genomics - Second Edition eBook

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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