Whole Genome Sequencing News and Research

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Specialized gene editing system paves way to eventual cure for HIV patients

A specialized gene editing system designed by scientists at the Lewis Katz School of Medicine at Temple University is paving the way to an eventual cure for patients infected with HIV, the virus that causes AIDS.

22 Mar 2016

New MyGene2 web tool may help find genes influencing Mendelian disorders

A new web tool, MyGene2, will enable patients and their families to join clinicians and scientists in the search for genes underlying rare disorders. The sharing of health information also will improve knowledge about how gene variants influence symptoms and other clinical features of Mendelian disorders.

3 Mar 2016

El Niño may transport waterborne diseases across new shores

New research just published has highlighted how El Niño could be transporting and spreading waterborne diseases like cholera thousands of miles, across oceans, with significant impacts for public health.

2 Mar 2016

Discovery could lead to better therapies for people with obsessive compulsive disorder

Research led by investigators in veterinary and human medicine has identified genetic pathways that exacerbate severity of canine compulsive disorder in Doberman pinschers, a discovery that could lead to better therapies for obsessive compulsive disorder in people.

27 Feb 2016

Scientists resolve tumor heterogeneity using innovative DEPArray technology

Using the innovative DEPArray technology, scientists at Silicon Biosystems, a Bologna (Italy) and San Diego (CA, USA) based biotech company, were able to solve one of the biggest limitation in the study of cancer genetic: tumor samples heterogeneity.

22 Feb 2016

Silicon Biosystems Menarini, Macrogen to jointly develop genomic cancer tests

Silicon Biosystems Menarini and Macrogen, Inc. today announced they will form a partnership to provide clinical assays and innovative procedures for precision medicine in cancer.

12 Feb 2016

Abnormal breakage of chromosomes in white blood cells triggers aggressive form of ALL

A research team led by St. Jude Children's Research Hospital scientists has discovered details of how the abnormal breakage and rearrangement of chromosomes in white blood cells triggers a particularly aggressive form of acute lymphoblastic leukemia (ALL). Such leukemias are cancers of white blood cells, in which genetic mutations trigger overproduction of immature cells, called lymphoblasts.

9 Feb 2016

St. Jude scientists develop interactive tool to advance understanding of mutations that fuel pediatric cancer

St. Jude Children's Research Hospital scientists have developed a web application and data set that gives researchers worldwide a powerful interactive tool to advance understanding of the mutations that lead to and fuel pediatric cancer. The freely available tool, called ProteinPaint, is described in today's issue of the scientific journal Nature Genetics.

30 Dec 2015

Researchers identify cause of rare syndrome consistent with Fanconi Anemia

An international team of researchers has established the cause of rare syndrome consistent with Fanconi Anemia: a de novo mutation in a so called RAD51 gene, which is responsible for repairing damages in the DNA.

23 Dec 2015

New easy-to-use computer program can quickly identify drug-resistant infections

Scientists have developed an easy-to-use computer program that can quickly analyse bacterial DNA from a patient's infection and predict which antibiotics will work, and which will fail due to drug resistance. The software is currently being trialled in three UK hospitals to see whether it could help speed up diagnosis of drug-resistant infections and enable doctors to better target the prescription of antibiotics.

21 Dec 2015

Research opens door to validation studies in multiple tumor types of liquid biopsy

Pancreatic cancer tumors spill their molecular secrets into the blood stream, shedding their complete DNA and RNA wrapped inside protective lipid particles that make them ripe for analysis with a liquid biopsy, researchers at The University of Texas MD Anderson Cancer Center report online at the Annals of Oncology.

18 Dec 2015

ICGC article lays foundation for the coming era of cancer genomic research

An eye-opening article from the International Cancer Genome Consortium was published today in the prestigious journal Nature Communications. It lays a foundation for the coming era of research in cancer genomics.

13 Dec 2015

Innovative DNA technology enables faster and more effective diagnosis of TB cases

Whole Genome Sequencing is a faster, cheaper and more effective way of diagnosing tuberculosis says a new study published in the journal Lancet Respiratory Medicine.

8 Dec 2015

Role of genetic predisposition in pediatric cancer patients

The most detailed analysis yet of the role germline mutations in genes associated with cancer predisposition play in the development of childhood cancer suggests that comprehensive genomic screening may be warranted on all pediatric cancer patients, not just those with a family history of cancer.

19 Nov 2015

Certain drugs could be used to treat gastric cancers with particular pattern of mutations

Gastric cancer, otherwise known as stomach cancer, does not respond well to existing treatments and it is currently the third leading cause of cancer death in the world (after lung and liver cancer). Researchers have discovered that certain drugs, currently used to treat breast, ovarian and pancreatic cancers, could also be used to treat certain gastric cancers with a particular pattern of mutations (genomic molecular fingerprint).

29 Oct 2015

UAB researcher awarded NIH grant to study pathogenesis of thrombotic microangiopathy

University of Alabama at Birmingham researcher X. Long Zheng, M.D., Ph.D., has received a five-year, $2.5 million National Institutes of Health grant to study the pathogenesis of thrombotic microangiopathy, or TMA. In simple terms, this means looking for factors that cause or aid the onset of extensive microscopic clots in small blood vessels throughout the body. Though tiny, these spots can damage kidneys, heart and brain, and they can cause death.

29 Oct 2015

Successful treatment of rare neurodegenerative disease exemplifies potential of precision medicine

A 20-month-old girl suffering from a rare neurodegenerative disease was diagnosed by exome sequencing and successfully treated.

23 Oct 2015

Forces in external environmental and oxidation are greatest threats to DNA, study finds

A study led by Indiana University biologist Patricia Foster and colleagues has found that forces in the external environment and oxidation are the greatest threats to an organism's ability to repair damage to its own DNA.

14 Oct 2015

Penn study forms basis for new treatment approaches for Sezary syndrome

Sezary syndrome (SS), an aggressive leukemia of mature T cells, is more complicated at a molecular level than ever suspected, according to investigators from the Perelman School of Medicine at the University of Pennsylvania.

8 Oct 2015

Epilepsy Society becomes third customer of Complete Genomics' newly introduced Revolocity system

Complete Genomics, Inc., a leader in whole human genome sequencing, announced today that leading UK charity Epilepsy Society has become the third customer of the company's newly introduced Revolocity system, a supersequencer for large-scale, high-quality whole genome and whole exome sequencing.

6 Oct 2015