Tag Archives: Kari Stefansson

deCODE to Integrate New Genetic Risk Factor for Type 2 Diabetes into its deCODEme™ Personal Genome Scan Service

Prince Joachim of Denmark and Princess Marie of Denmark along with deCODE scientist Unnur Thorsteinsdottir during an official visit to deCODE laboratories earlier this year

Crown Prince Frederik of Denmark and Crown Princess Marie of Denmark along with deCODE scientist Unnur Thorsteinsdottir during an official visit to deCODE laboratories earlier this year.

Reykjavik, ICELAND, December 8, 2008 – deCODE genetics (Nasdaq:DCGN) today announced the discovery by an international consortium of scientists from deCODE and major European and US academic institutions of a single letter variation in the human genome (SNP) that is associated with increased fasting glucose levels and risk of type 2 diabetes (T2D). deCODE will employ its CLIA-registered genotyping laboratory and existing testing platform to swiftly integrate the finding into its deCODEme™ personal genome scan, and to assess the addition of this new variant to the company’s deCODE T2™ reference laboratory test for assessing individual risk of type 2 diabetes.
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deCODE launches deCODE BreastCancer™, a genetic test to screen for risk of the most common forms of breast cancer

deCODE Breast Cancer enables women to understand whether they may benefit from more intensive screening, monitoring or preventive drug therapy.

deCODE Breast Cancer enables women to understand whether they may benefit from more intensive screening, monitoring or preventive drug therapy.

Reykjavik, ICELAND, October 8, 2008 – deCODE genetics today announced the launch of deCODE BreastCancer™, a new tool for assessing risk of the common forms of breast cancer. For the first time, a woman concerned about breast cancer can speak with her physician about a genetic test to better understand her lifetime risk of developing the common forms of the disease.

The common forms of breast cancer result from the interplay of genetic as well as environmental and lifestyle factors and represent 95 percent of all breast cancers. These are distinct from the rare and essentially purely inherited forms of the disease due to mutations in the BRCA1 and BRCA2 genes, which cause between 1 and 3 percent of breast cancers. deCODE BreastCancer™ is a DNA-based reference laboratory test performed using a simple blood sample or cheek swab, ordered by physicians on behalf of their patients.
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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.

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How much did Boonsri Dickinson learn from her home DNA test?

Science journalist Boonsri Dickinson

Science journalist Boonsri Dickinson

Discover magazine reporter Boonsri Dickinson recently tried out deCODEme, as well as two other genetic scans offered by California-based websites. She discusses her results, and talks to several people who question whether genetic scans should be available to the public. Dickinson seems to be happy she had the chance to take a look at her genome, and went over her results with deCODE CEO Kari Stefansson. She notes that as “deCODE is known for discovering genetic risk factors…I decided to use deCODEme to validate the other two,” concluding that “deCODE genetics was authoritative.” Her article, ‘Inside Out: A DNA Diary,’ appeared on newsstands in August and can be found on the Discovermagazine.com website.

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New deCODE analytical tool multiplies power to discover rare genetic risk factors for common diseases

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On Sunday, August 17, deCODE published a new statistical method for increasing the information that can be derived from high-density genotyping, leveraging the genotypic data the company has already generated
on tens of thousands of participants in its gene discovery programs. In the above video, CEO Kari Stefansson, the company’s head statistician Augustine Kong, and Chief of Communications Edward Farmer talk about how this method works and why it may help deCODE to find rarer variants conferring risk of common diseases.

Link: Read abstract in Nature Genetics

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Genetic tests will drive shift from intervention to prevention says Dr. Kari Stefansson

In a recent interview Dr. Kari Stefansson, C.E.O. of deCODE genetics talked about the future for genetic tests such as deCODEme and how he believes that they will drive the shift from intervention to prevention in medicine

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Welcome to the deCODE blog

As the founder and CEO of deCODE, I want to welcome you to our blog, deCODEyou. This is a place where you can learn not just about deCODE’s discoveries and products but what others are saying about our work and about the application of human genetics to healthcare. We also hope that it will become a place where we can hear from you.

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A Smoking Gene: deCODE Scientists Identify a Genetic Variant that Confers Nicotine Dependence

Scientists from deCODE genetics have identified a clear link between one genetic variant and susceptibility to nicotine dependence and will publish their results in the April 3 issue of Nature. Moreover, in part because of its impact on smoking behavior, each copy of the risk variant of this SNP confers an approximately 30% increase in risk of lung cancer and a 20% increase in risk of peripheral arterial disease (PAD), a common and debilitating constriction of the arteries to the legs.

deCODE scientists came upon the genetic variant by closely examining the genetic makeup of more than 10,000 smokers. They then followed up with an analysis of 32,000 patients and controls from Iceland, New Zealand, Austria, Sweden, Italy, the Netherlands and Spain for lung cancer and PAD, two common diseases strongly associated with smoking.

Kari Stefansson, deCODE CEO, expressed the importance of the discovery: “These findings provide an example of the power of human genetics for shedding light on the most complex health challenges. Not only have we made a convincing link between a single genetic variant and a behavioral disorder - greater smoking quantity and addiction to nicotine - but also demonstrated how this risk factor translates into risk of lung cancer and PAD.”

Stefansson also pointed out that deCODE’s genetic profile service, deCODEme, will test for the gene immediately.

Details of the smoking gene study, which was funded in part by the European Commission, and from the National Institute of Drug Abuse of the U.S. National Institutes of Health, are available at www.nature.com.

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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.”

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