Whole Genome Sequencing News and Research

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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

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