Whole Genome Sequencing News and Research

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New worldwide collaboration aims to speed up effective diagnosis of TB

As World TB day (24 March) marks global efforts to eliminate tuberculosis as a public health problem by 2035, Oxford University researchers, in partnership with Public Health England (PHE), will lead a new worldwide collaboration called CRyPTIC to speed up diagnosis of the disease.

23 Mar 2016

Addition of just two DNA bases to LdAQP1 gene helps Black Fever parasite to overcome antimonial drugs

Wellcome Trust Sanger Institute scientists show how the parasite responsible for the neglected tropical disease Black Fever (visceral leishmaniasis) can become resistant to drug treatment. Studying the whole genomes of more than 200 samples of Leishmania donovani revealed that the addition of just two bases of DNA to a gene known as LdAQP1 stops the parasite from absorbing antimonial drugs.

23 Mar 2016

Pediatric researchers find gene variants that can strongly increase bone strength in girls

Pediatric researchers have found that rare genetic changes strongly increase the likelihood that a child will have higher bone density, but only in girls.

23 Mar 2016

Whole genome sequencing of chimpanzee parasite reveals clues about human malaria

Understanding the origins of emerging diseases - as well as more established disease agents -- is critical to gauge future human infection risks and find new treatment and prevention approaches. This holds true for malaria, which kills more than 500,000 people a year. Symptoms, including severe anemia, pregnancy-associated malaria, and cerebral malaria, have been linked to the parasite's ability to cause infected red blood cells to bind to the inner lining of blood vessels.

22 Mar 2016

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

Whole Genome Sequencing News and Research

New worldwide collaboration aims to speed up effective diagnosis of TB

Addition of just two DNA bases to LdAQP1 gene helps Black Fever parasite to overcome antimonial drugs

Pediatric researchers find gene variants that can strongly increase bone strength in girls

Whole genome sequencing of chimpanzee parasite reveals clues about human malaria

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

New MyGene2 web tool may help find genes influencing Mendelian disorders

El Niño may transport waterborne diseases across new shores

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

Scientists resolve tumor heterogeneity using innovative DEPArray technology

Silicon Biosystems Menarini, Macrogen to jointly develop genomic cancer tests

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

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

Researchers identify cause of rare syndrome consistent with Fanconi Anemia

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

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

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

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

Role of genetic predisposition in pediatric cancer patients

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

UAB researcher awarded NIH grant to study pathogenesis of thrombotic microangiopathy

Sequencing & Genomics: Elevating Science and Healthcare eBook

Sensing a Healthier Future

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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