Whole Genome Sequencing News and Research

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Early genetic diagnosis in neonatal diabetes a ‘new framework for clinical care’

Early genetic testing of babies with suspected neonatal diabetes identifies the underlying cause in more than 80% of cases, say researchers.

1 Oct 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

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

$Whole-genome sequencing identifies EN1 gene as determinant of bone mineral density, fracture$

Whole-genome sequencing identifies EN1 gene as determinant of bone mineral density, fracture

Using extensive genetic data compiled by the UK10K project, an international team of researchers led by Dr. Brent Richards of the Lady Davis Institute at the Jewish General Hospital has identified a genetic variant near the gene EN1 as having the strongest effect on bone mineral density (BMD) and fracture identified to date.

15 Sep 2015

Penn Medicine researchers show that DNA editing errors can lead to cancer

Sometimes when the immune system makes small mistakes, the body amplifies its response in a big way: Editing errors in the DNA of developing T and B cells can cause blood cancers. Now, researchers from the Perelman School of Medicine, University of Pennsylvania have shown that when the enzyme key to cutting and pasting segments of DNA hits so-called "off-target" spots on a chromosome, the development of immune cells can lead to cancer in animal models.

11 Sep 2015

New DNA analysis may guide personalized management of hepatocellular carcinoma

Detection of small fragments of tumor DNA, known as circulating tumor DNA, in a patient's pre-surgery serum samples predicts early recurrence of hepatocellular carcinoma and may guide treatment, according to a study published in Cellular and Molecular Gastroenterology and Hepatology, the basic and translational science journal of the American Gastroenterological Association.

10 Sep 2015

Study provides mechanism for EDNRB gene's role in adaptation to life at high altitudes

Ethiopians have lived at high altitudes for thousands of years, providing a natural experiment for studying human adaptations to low oxygen, a condition known as hypoxia. One factor that may enable Ethiopians to tolerate high altitudes and hypoxia is the endothelin receptor type B (EDNRB) gene.

4 Aug 2015

Retail meat harbors disease-causing Klebsiella pneumoniae, shows new study

Chicken, turkey and pork sold in grocery stores harbors disease-causing bacteria known as Klebsiella pneumoniae, according to a new study. The research, which was published online today in the journal Clinical Infectious Diseases, shows that contaminated meat may be an important source of human exposure to Klebsiella.

23 Jul 2015

Research: 'Pill on a string' could help detect early signs of oesophageal cancer

A 'pill on a string' developed by researchers at the University of Cambridge could help doctors detect oesophageal cancer - cancer of the gullet - at an early stage, helping them overcome the problem of wide variation between biopsies, suggests research published today in the journal Nature Genetics.

21 Jul 2015

Genetic mutation associated with severe loss of body fat, appearance of premature aging in children identified

Researchers at the Translational Genomics Research Institute have identified a genetic mutation associated with the appearance of premature aging and severe loss of body fat in children.

17 Jul 2015

UW researchers help develop new compound to combat malaria

An international team of scientists — led by researchers from the University of Washington and two other institutions — has announced that a new compound to fight malaria is ready for human trials. In a new paper published July 15 in Science Translational Medicine, they show that this compound is the first to cripple a critical protein that the malaria parasite needs to survive at different stages of its complex life cycle, and is suitable for clinical tests in humans.

16 Jul 2015

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