Whole Genome Sequencing News and Research

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DTC genetic testing has negative consequences in children

A woman coping with the burden of familial breast cancer can't help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to be prepared for the future, or to wait? During the last decade, genetic tests have been through a sea change, both in their availability and the technologies behind them. Today there are at least 34 companies that offer direct to consumer (DTC) DNA testing, some of which return health results. And now it is possible to sequence someone's entire genetic code for the price of a laptop.

3 Jul 2015

Researchers discover link between acute liver failure and specific gene mutations in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München, the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

3 Jul 2015

Researchers establish link between NBAS gene and acute liver failure

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München (TUM), the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene.

2 Jul 2015

7th Annual Personalized & Precision Medicine Conference to be held in Baltimore from Oct. 5 to 6, 2015

Arrowhead's 7th Annual Personalized & Precision Medicine Conference is coming to Baltimore, MD on October 5-6, 2015 as an official satellite event to the American Society for Human Genetics Annual Meeting.

30 Jun 2015

Study demonstrates potential of new approach for sorting out BRCA1 gene variants

Patients seeking certainty in genetic tests often receive a perplexing result. Many learn they carry a 'variant of unknown significance' of a disease-linked gene. Such variants might -- or equally might not -- increase disease risk.

19 Jun 2015

Manchester first to implement Congenica's Sapientia technology to provide fast, accurate diagnosis for genetic diseases

10,000 new patients a year are treated by the Manchester Centre for Genomic Medicine (MCGM) for a range of rare diseases including cancers, developmental disorders and disabilities including hearing and vision loss - diagnosis can be time-consuming and invasive.

10 Jun 2015

Whole genome sequencing can help implement rapid-response infection control protocols

Whole genome sequencing can quickly isolate the specific strain of bacteria causing an outbreak, identify the source of contamination, and enable rapid infection prevention to stop the spread of infection, according to a study published today.

9 Jun 2015

New TB-Profiler tool to find appropriate drugs for TB patients may improve likelihood of cure

Finding out what drugs can be used to treat a patient with tuberculosis (TB) can be sped up by days or weeks, thanks to a new free online tool. The new TB-Profiler tool, developed by a team of scientists led by Dr Taane Clark at the London School of Hygiene & Tropical Medicine, analyses and interprets genome sequence data to predict resistance to 11 drugs used for the treatment of TB.

29 May 2015

Congress needs to act to incentivize development of genomic data systems

The latest generation of genomic testing offers a chance for significant improvements in patient care, disease prevention, and possibly even the cost-effectiveness of healthcare, but Congress needs to act to incentivize the development of the massive data systems that doctors and regulators will need in order to make these tests safe and effective for patients.

28 May 2015

Researchers discover new gene subgroup that drives prostate cancer

Prostate cancer researchers have drawn a molecular portrait that provides the first complete picture of localized, multi-focal disease within the prostate and also unveils a new gene subgroup driving it.

26 May 2015

Clinicians play key role in making consumers aware of the threats of foodborne diseases

Food safety awareness is key to understanding the food safety issues on the horizon, and clinicians at hospitals and doctors' offices play a key role in ensuring consumers are aware of the threats of foodborne illness, said the University of Georgia's Michael Doyle.

21 May 2015

New test could identify resistant tuberculosis faster

Tuberculosis (TB) disease rates in some parts of London are as high as in Sub-Saharan Africa, and drug-resistant strains are becoming increasingly common.

From Oxford Gene Technology 14 May 2015

UCL-led team develops new technique to find resistant TB faster

The time needed to genetically sequence the bacteria causing tuberculosis (Mtb) from patient samples has been reduced from weeks to days using a new technique developed by a UCL-led team. This could help health service providers to better treat disease, control transmission of this infection, and monitor outbreaks.

From Oxford Gene Technology 13 May 2015

Scientists identify gene that causes hereditary hypertension and brachydactyly type E

Individuals with this altered gene have hereditary hypertension (high blood pressure) and at the same time a skeletal malformation called brachydactyly type E, which is characterized by unusually short fingers and toes. The effect on blood pressure is so serious that -- if left untreated -- it most often leads to death before age fifty.

11 May 2015

St. Jude scientists develop new computer tool to find DNA duplications and deletions in tumors

St. Jude Children's Research Hospital scientists have developed a significantly better computer tool for finding genetic alterations that play an important role in many cancers but were difficult to identify with whole-genome sequencing.

5 May 2015

Study may point to immediate cause of CF exacerbations

In the genetic disorder cystic fibrosis (CF), the most severe symptoms are recurring episodes of lung inflammation and bacterial infection (known as "exacerbations") that happen from one to three times a year and cause ever-increasing amounts of lung damage through the course of a CF patient's life.

9 Apr 2015

Mobidiag announces CE-IVD marking and launching of Amplidiag C. difficile+027 test

Mobidiag Ltd, a Finnish molecular diagnostics company specialized in the development of innovative diagnostics solutions for infectious diseases, today announced the launch of Amplidiag C. difficile+027, a qualitative qPCR-based test performed from DNA extracted from stool in suspected cases of C. difficile infection (CDI).

9 Apr 2015

Scientists uncover the genetic root of prostate cancer

Scientists have revealed the root of prostate cancers in individual men, discovering that despite huge genetic variety between tumours they also share common gene faults - insight that could offer new treatment hopes, according to research published in Nature today (Wednesday).

2 Apr 2015

Iceland paint a genomic picture for an entire nation

Researchers in Iceland have published the largest ever studies of whole-genome data and effectively deduced the genetic code of “an entire nation.”

26 Mar 2015

Key finding may point to immediate cause of CF exacerbations

24 Mar 2015