Archive for the ‘Genetic Research’ Category
deCODEme for “Curious George” – A catalog of published results from the National Human Genome Research Institute
The National Human Genome Research Institute catalog can now be accessed through your deCODEme account
Through your deCODEme account (or the demo account if you are not yet a deCODEme customer) you can access a catalog of published Genome-Wide Association Studies (GWAS) that has been compiled by the National Human Genome Research Institute (NHGRI).
This feature allows you to gain a quick overview of where research on common traits has been showing associations with single nucleotide genetic variations (SNPs). Users can easily select a disease or trait from a list and a feature track with the corresponding SNPs from the catalog will show up in our Genome Browser.
Many of the associations in the GWAS catalog compiled in August 2009 are included in our Health Watch feature. There are also numerous other associations that our scientists have not included, as they do not fulfill the criteria we set for inclusion in our Health Watch.
The GWAS catalog is presented (see here) simply as it appears on the NHGRI web site and has not been reviewed by deCODE’s scientists. The catalog is provided primarily for educational purposes – for the curious George who wants to look at genome-wide association study results in the context of other information that we provide in our Genome Browser.
deCODE Discovers New Risk Factors for Prostate Cancer
deCODEme Prostate Cancer
Last night we announced our discovery of four more SNPs linked to increased risk of prostate cancer. At the same time, academic collagues in the US and UK have also found more SNPs. (See article in TIMES ONLINE) All of the well-validated new risk variants will be incorporated into your deCODEme profile in the days ahead.
In the same study we published yesterday, we also conducted an analysis of all well-validated genetic risk factors discovered to date to establish what percentage of men would be at a significantly higher risk than average using these markers. Based upon our ability to swiftly conduct a population-based analysis in Iceland, this analysis demonstrates that about 4% of men are at more than double average risk based upon these risk factors, while just over 1% are at more than 2.5-times average risk.
Read the rest of this entry »
deCODE-led Megastudy Finds New Genetic Clues to Causes of Schizophrenia
deCODE-led Megastudy Finds New Genetic Clues to Causes of Schizophrenia. Findings expand knowledge of the biology of the disease and provide potential new drug targets.
The largest study of the genetics of schizophrenia ever undertaken has revealed several new common single-letter variants in the sequence of the human genome (SNPs) linked to risk of the disease. The study, by a multinational consortium of scientists led by a team from deCODE genetics, analyzed the genomes of more than 50,000 patients and control participants from fourteen countries. It is published today in the online edition of Nature.
Read the rest of this entry »
deCODE Discovers a Gene Linked to Risk of Kidney Stones and Osteoporosis
deCODE Discovers a Gene Linked to Risk of Kidney Stones and Osteoporosis. Findings offer promising target for drugs to better regulate calcium metabolism, are integrated into deCODEme™.
A discovery by scientists at deCODE genetics and academic colleagues from Iceland, the Netherlands and Denmark has pointed to a common biological mechanism contributing to both kidney stones and decreased bone mineral density (BMD). About 60% of the population carry two copies of a single-letter variation in the human genome (SNP) on chromosome 21, putting them at roughly 65% greater likelihood of developing kidney stones than those who carry no copies. This single variant may thus account for more than a quarter of the incidence of kidney stones, and in women carriers it is also associated with decreased BMD at the hip and spine.
Who’s afraid of genetic testing?
As a deCODEyou reader, you have an active interest in how genetics can help to improve personal health and healthcare. If you are a deCODEme subscriber or have taken one of our DNA-based diagnostic tests, you have already followed up on that interest.
Then again, you may not have had your genome analyzed yet. You may simply be interested in taking part in research, having a scan, or simply in keeping up with the latest discoveries.
But whoever you are, your genome is information about you. And at deCODE, we believe that your genome belongs to you. Over the past decade we have worked with hundreds of thousands individuals who have decided to use their genome to advance our gene discovery work, to understand their risk of a certain disease, or who want to have a broad and constantly updated look at their genome through deCODEme. In every case, we think it is the individual who has the right to decide to use their genome and learn about it as they wish.
Stories from our foremothers: deCODE publishes an unparalleled genetic snapshot of Iceland 1000 years ago
Iceland was mainly settled by Scandinavian men and women from Irealand and Scotland
In a paper published today scientists at deCODE genetics present the results of the largest study of ancient DNA from a single population ever undertaken. Analyzing mitochondrial DNA, which is passed from mother to offspring, from 68 skeletal remains from approximately 1000 years ago, the study provides the most detailed look to date at how a contemporary population differs from that of its ancestors. The results confirm previous deCODE work that used genetics to test the history of Iceland as recorded in the sagas.
Audio link: Dr. Kari Stefansson interviewed on BBC WORLD. BBC
These studies demonstrated that the country seems indeed to have been settled by men from Scandinavia – the vikings – but that the majority of the original female inhabitants were from the coastal regions of Scotland and Ireland, areas that regularly suffered raids by vikings in the years around the settlement of Iceland 1100 years ago.
Read the rest of this entry »
New genetic variants influencing Body Mass Index, Weight, and risk of Obesity
deCODE scientists have discovered new genetic variants influencing BMI, weight and risk of obesity
As we all know to well, for decades the scales have been tipping in favor of obesity. The epidemic of obesity in many industrialized countries has been driven by many factors, including easy access to fast food, an increasingly sedentary lifestyle, insufficient daily physical activity. All of this while our genomes have evolved on a background of scarcity, often putting a premium on the ability of the body to turn food into fat and store energy for leaner times. A paper published today by deCODE scientists and academic colleagues from the US and Europe provide a significant advance in our knowledge of the underlying genetics and biology of obesity, providing new information for understanding and addressing obesity and perhaps nudging the scales the other way.
Read the rest of this entry »
The battle against breast cancer gets personalized
A new genetic test assessing a woman's risk of developing the most common forms of breast cancer has arrived. Can the test, developed by the biopharmaceutical company deCODE, improve the way doctors screen for breast cancer?
Breast cancer kills 40,000 people a year in the U.S. This is about the population of Atlantic City, New Jersey. Imagine, each year an entire city wiped out by breast cancer.
To help fight breast cancer, a new test assessing individual risk has just become available. For women without a clear family history of the disease, the deCODE BreastCancerTM test assesses their personal risk of developing the most common forms of breast cancer. The DNA test, launched by the biopharmaceutical company deCODE, makes it possible to identify those women at significantly higher than average risk, helping doctors use new screening technologies and treatments in a more targeted, personalized and effective manner.
Your genome, your choice: a buyer’s checklist for genetic tests
Scientists at deCODE genetics Genetic Service Facility lab in Iceland
The number of companies offering genetic tests to the public is large and growing. But there are vast and very real differences in the quality, purpose and price of testing services out there. So how do you tell the difference between them? And how do you decide which to use?
Knowing what you want
First and foremost, you need to think about what sort of information you hope to gain from your genome and how accurate you want the results to be. Are you taking the test only for fun, perhaps hoping to talk about your results on Facebook? Read the rest of this entry »
deCODE and Radboud University discover common variants in the human genome conferring risk of bladder cancer
Urinary bladder cancer is something many people have never heard of. But it is the sixth most common form of cancer in the United States, and its environmental risk factors include exposure to toxic chemicals, including some used in industrial processing as well as cigarette smoke. Genetic factors also play a role and may help to elucidate how bladder cancer starts and develops.
Today, deCODE’s cancer group and colleagues at Radboud University in the Netherlands report the discovery of two single letter variants (commonly referred to as SNPs) in the human genome that confer increased risk of bladder cancer. Both are common, and 20 percent of people of European descent carry two copies of the highest impact SNP, located on chromosome 8q24. That puts them at about 50 percent higher likelihood of developing bladder cancer than people who do not carry the variant.
Not all genetic tests are created equal
Here are a few thoughts on Nic Fleming’s piece on personal genome scans, of which one was our own, deCODEme:
Our genomes are all remarkably similar. And so it is the differences that are most interesting and important, and that make us who we are.
The same can be said of genetic testing services. We at deCODE were not at all surprised that Mr. Fleming found that he got some varying results from the three genome scans that he tried. Indeed we would be surprised (and more than a little dismayed) if he hadn’t. Analyzing the genome – accurately detecting which genetic markers individuals have at specific points in the genome, and correlating these variations with risk of a range of common diseases – has been our bread and butter for well over a decade. Read the rest of this entry »
Evidence of genetic links to schizophrenia
deCODE and SGENE Consortium Discover Deletions in the Human Genome Linked to Risk of Schizophrenia
Findings may provide the foundation for a test to complement standard clinical diagnosis, potentially enabling earlier intervention and treatment
A team of scientists led by deCODE genetics has discovered evidence of three rare deletions in the human genome that confer a greater risk of schizophrenia. This discovery shows that individuals who have one of these deletions may be up to 15 times more likely to develop schizophrenia than the population at large. See “Large recurrent microdeletions associated with schizophrenia” which appeared this afternoon in Nature (www.nature.com)
deCODE Obesity Study Sheds Light on how Genetics Affects Risk and Onset of Common Diseases
In a paper published online today in the journal Nature, a team of deCODE scientists detail a major mechanism through which genetic factors contribute to major public health problems.
In its work on the inherited components of dozens of common diseases, deCODE has discovered gene variants that significantly affect individual susceptibility or protection against disease. In the common forms of these conditions – such as obesity, type 2 diabetes and cardiovascular diseases – deCODE has previously shown that genetic variants confer increased or decreased risk by up-regulating or down-regulating the activity of major biological pathways.
In today’s paper, the deCODE team and collaborators from Merck demonstrate one of the principal ways in which the activity of biological pathways is functionally perturbed in a quintessentially complex condition: obesity.
Kari Stefansson, CEO of deCODE, put the study into context: “One of the observations we have made in our work on the isolation of disease genes is that the genetic risk of common diseases is often conferred by variations in the sequence of the genome that affect expression of genes. Hence, one of the ways to approach the study of common diseases is through the analysis of gene expression. This paper provides a substantial contribution towards the understanding of gene expression in man and one example of how it can be used to expand our knowledge of one disease, namely obesity.”
