deCODE You

deCODE genetics ehf today emerged as a newly financed, private company focused on advancing the science of human genetics and its application to products and services that improve human health. The new company will be building on the scientific leadership in genetics it developed over more than a decade as a subsidiary of deCODE genetics, Inc. deCODE ehf was this week purchased from its former parent company by Saga Investments LLC, a consortium that includes Polaris Ventures and ARCH Venture Partners, two leading life science investors. deCODE will continue all of its operations and product lines in this field, including its deCODE diagnostics disease risk tests; deCODEme™ personal genome scans; and contract service offerings including genotyping, sequencing and data analysis. Going forward, deCODE  will concentrate on translating its science into medically and commercially important products and services.  The company will be led by a two-man executive committee comprised of Earl “Duke” Collier, previously an executive vice president at Genzyme Corp.,who will serve as CEO, and Kari Stefansson, who will serve as executive chairman and president of research.

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deCODE scientists have discovered a single SNP that confers increased risk if inherited from the father, but is protective if inherited from the mother

Scientists at deCODE genetics, Inc. publish in the journal Nature the discovery of a version of a common single-letter variant in the sequence of the human genome (SNP) with a major impact on susceptibility to type 2 diabetes (T2D). The impact of the T2D variant is not only large, but unusual: if an individual inherits it from their father, the variant increases risk of T2D by more than 30% compared to those who inherit the non T2D-linked version; if inherited maternally, the variant  lowers risk by more than 10% compared to the non T2D-linked version. Nearly one quarter of those studied have the highest risk combination of the versions of this SNP, putting them at a roughly 50% greater lifetime risk of T2D than the quarter with the protective combination. This is the second largest effect of any genetic variant for T2D apart from SNPs in TCF7L2, discovered by deCODE in 2006.

“We could make this discovery beacause we are in the unique position of being able to distinguish what is inherited from the mother from what is inherited from the father. This we can do because of the large amount of data we have assembled on the Icelandic population. Read the rest of this entry »

As a follower of deCodeYou, we wanted to let you know about some important developments in the company and how we believe these will underpin our ability to continue to keep you in the forefront of understanding what the latest advances in genetics mean for you and your health.

For the past several months, deCODE has been working on restructuring its operations. As a result of these efforts, deCODE has entered into and filed concurrently with its Chapter 11 petition announced today an asset purchase agreement under which it would sell its Iceland-based human genetics operation to new owners. This is the subsidiary that conducts our human genetics research, manages our population genetics resources and provides our personal genome scans and DNA-based risk assessment tests. This agreement is subject to a number of contingencies, including a competitive bidding procedure and court approval in accordance with bankruptcy law. It also provides interim financing to enable us to continue operations during the Chapter 11 process, and we have asked the court for the customary authority to continue to provide products and services to our customers without interruption during the bankruptcy process.

Thus you should expect to continue to hear from here on all the latest in human genetics and its relevance to health and healthcare. You can read our press release here.

With best regards,

The deCODEyou team

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.
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deCODE Discovers Second Common Genetic Risk Factor for Atrial Fibrillation and Stroke. Will be integrated into deCODE AF™ DNA-based risk assessment test, and into the deCODEme™ and deCODEme Cardio™ scans.

Scientists at deCODE genetics and colleagues from Europe and the United States today report the discovery of a common single-letter variant in the sequence of the human genome (SNP) conferring increased risk of atrial fibrillation (AF) and stroke. The findings will be integrated directly into the deCODE AF™ reference laboratory test for gauging individual risk of AF and stroke and helping to identify stroke patients who may benefit from enhanced monitoring for AF. The study is published online today in Nature Genetics.
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Click on the image to watch the 60 Minutes Australia segment on genetic testing

The Killer In You

60 Minutes Australia recently visited the deCODE genetics labs in Iceland and interviewed deCODE’s CEO Dr. Kari Stefansson. Among the people who did the deCODEme genetic test were journalist Liz Hayes, world surfing champion Layne Beachley and Australian television’s favorite builder, Scott Cam. To watch the 60 Minutes Australia segment click on the image above. To read the transcript of the webchat with Professor Bob Williamson click here. To learn more about deCODEme genetic tests and order your personal genome scan visit www.decodeme.com.

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.
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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.
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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 customer rep Larus Jon Gudmundsson and genetic counselor Kris Kristjansson MD

Tapping the vast resources of deCODEme scientists

The users of deCODEme show great interest in their results and are not afraid to ask questions. deCODEme customer support welcomes all questions and inquiries and taps the vast knowledge base and resources of its research teams to respond to all emails as comprehensively and quickly as possible. Among the more general questions we receive is the following.

Question
“I’m seriously thinking about doing the DNA test. Now I only have to decide from which company. How does your test compare with tests from other companies?”
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deCODEme genetic test includes an identification of the male pattern baldness trait.

A team of scientists, led by Professor Tim Spector of King’s College, London, have been taking a closer look at the genetic coordinates for male pattern baldness or androgenic alopecia. Male pattern baldness is the most common form of hair loss in men and one that increases steadily with age. While it has been known for some time that men inherit a tendency for baldness via their x chromosomes from their maternal grandfather, this new research has identified a region on chromosome 20 (20p11) that suggests that a susceptibility for baldness is also inherited directly from one’s father. Read the rest of this entry »

On October 8th MSNBC published an article by Arthur Caplan, Ph.D. on genetic tests for breast cancer.
The following is a response by Jeff Gulcher, M.D., Ph.D, Chief Scientific Officer at deCODE Genetics.

Arthur Caplan stresses caution in the application of the new genetic risk tests for common diseases and I certainly agree that genetic testing should be applied with care. However, he goes too far when he says that the new deCODE BreastCancer genetic risk test is only useful for women who have two or more close relatives with breast cancer, is not based on large enough studies to be accurate, and is not regulated.

There are two major types of breast cancer: the rare, early onset form that occurs in certain families and for the detection (for which the Myriad Genetic test is well suited), and the common form which accounts for 95 percent of breast cancer. The vast majority of women who develop breast cancer do not have the conventional risk factors of family history, pregnancy history or breast density. Unfortunately, many of these women were likely considered to be of average risk before their cancer was found. Therefore, they were not even offered screening with breast MRI which detects two to three times more cancer at an earlier stage than mammography alone, or preventive measures such as tamoxifen treatment which can cut down cancer rates by 40 to 50%.
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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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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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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

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

Lauralee Nygaard, a periodontist from Spokane, WA, says the deCODE tests are easy to take and highly cost effective but that we have to pay close attention to the results and be prepared to make some serious lifestyle changes.

Lauralee Nygaard is a dentist from Spokane, Washington. She is in her early forties and has two young children. Three years ago Lauralee had a stroke while she was performing surgery on a patient. It confirmed her suspicions about a predisposition to heart disease that she had nurtured since she was 18.

“When I was 18, I went to the doctor and said, ‘I know I’m at risk for a heart attack, my dad has hypercholesterolemia.’ The doctor laughed at me. He said, ‘you’re a skinny girl, you’re never going to have heart disease.”

A stroke at forty confirmed her worst fears: “It corroborated the fact that I knew I was at risk. I had pushed my family physician for years to be aggressively preventative with making sure I didn’t have heart disease. He always told me there was nothing they could do.”

As a dentist who had stressed the importance of preventative care for years, Lauralee was ready to practice what she had preached

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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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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)

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NBC’s Robert Bazell looks at genetic research in Iceland and interviews deCODE’s CEO Dr. Kari Stefansson. Of special interest is the work carried out on common diseases that have a genetic component. Stefansson predicts that genetic tests will be widely used within 3-5 years.

NBC chief science correspondent, Robert Bazell, reports on deCODE in Iceland. Iceland is a goldmine of genetic information. where new discoveries in genetic testing may mean a healthier life for the whole world. That Icelanders have an extensive knowledge of their ancestry, says Bazell, has been interesting for history, but now it’s very important for medicine.

deCODE genetics welcomes the signing of the Genetic Information Non-discrimination Act (GINA), a bill that, many years in the making, has now been signed by President Bush. GINA will provide a federal counterpart to existing legislation in many states prohibiting discrimination against individuals in matters of employment or healthcare coverage based upon the results of genetic tests or other genetic information.

Link: Read the full deCODE statement on GINA from April 25 2008

Scientists from deCODE genetics today report the discovery of two common single-letter variants (SNPs) associated with risk of estrogen receptor-positive (ER+) breast cancer. More than 60% of the general population carry at least one copy of the risk variant of the most important SNP, and women who have inherited the variant from both parents are at approximately 50% greater risk of developing ER+ breast cancer than women who have not inherited the variant. The second variant is located near the first and occurs only in tandem with it, adding slight risk of the disease. Although these variants confer modest risk, they are so common that they are estimated to account for approximately 11% of breast cancers overall.

With this latest discovery, the genetic factors underpinning a very significant proportion of inherited risk of ER+ breast cancer have now been elucidated. Common variants previously discovered by deCODE are together involved in an estimated 25% of ER+ breast cancers.

deCODE made today’s discovery through the analysis of genotypic data from a total of nearly 40,000 patients and control subjects from five countries. deCODE gratefully acknowledges the participation of the patients and researchers who took part in this study.

Link: Read the paper, ‘Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer’, in Nature Genetics

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.