Author Archive
deCODE Discovers Second Common Genetic Risk Factor for Atrial Fibrillation and Stroke

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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It’s Not Just the Sun: deCODE Discovers Sequence Variants Affecting Susceptibility to Skin Cancer
Scientists at deCODE genetics and academic colleagues from Europe and the United States today present in the journal Nature Genetics the discovery of common genetic risk factors for basal cell carcinoma (BCC) that affect people with fair and dark complexions alike. deCODE had previously discovered five common single-letter variants in the sequence of the human genome (SNPs) linked to risk of BCC, the most common cancer in people of European descent. However, most of these earlier findings were also correlated with fair skin, well known to accompany vulnerability to the damaging effects of ultraviolet radiation in sunlight. By contrast, three of the SNPs presented today do not correlate with light pigmentation…
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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.
One of the SNPs is located near the neurogranin gene (NRGN) on chromosome 11. NRGN may be a candidate drug target, as it appears to play an important role in regulating both memory and cognition, processes that are often perturbed in schizophrenics. Another SNP is in the transcription factor 4 (TCF4) gene on chromosome 18, which is involved in brain development. Five of the SNPs are located very closely together in the Major Histocompatibility Complex, a region on chromosome 6 densely packed with genes regulating immune response. This lends support to previous research suggesting a possible environmental link between schizophrenia immune response. It has long been known, for example, that a disproportionately large number of schizophrenics are born in the winter and spring, when influenza rates are usually highest. All of the variants found in this study are very common and each is associated with a modest increase in risk.
“Genetics offers a unique window for better understanding diseases like schizophrenia because the brain and cognition are so little understood and so difficult to study. Discoveries such as these are crucial for teasing out the biology of the disease and making it possible for us to begin to develop drugs targeting the underlying causes and not just the symptoms of the disease. One of the reasons this study was so successful is its unprecendented size. Pooling our resources has yielded spectacular results, which is what the participants from three continents hoped for. At the same time, this study underscores the fact that rare variants may well carry a significant part of the genetic risk of schizophrenia, so our next task is to use the ever more affordable sequencing technologies to find more of them,” said Kari Stefansson, CEO of deCODE and corresponding author on the paper.
In the first phase of the study, the deCODE-led SGENE consortium conducted a genome-wide scan of more than 300,000 SNPs in a total of 17,000 patients and controls from England, Finland, Germany, Iceland, Italy and Scotland. The 1500 SNPs with the best signal were then analysed in 11,000 patients and controls from the International Schizophrenia Consortium (ISC) and the European-American portion of the Molecular Genetics of Schizophrenia studies (MGS). Twenty-five SNPs with strong suggestive correlation were then followed up in more than 20,000 patients and controls from the Netherlands, Denmark, Germany, Hungary, Norway, Russia, Finland and Spain. Bringing together the results of different consortia established he association between the total of seven markers on chromosomes 6, 11, and 18 with increased risk of schizophrenia.
deCODE and all of the authors would like to thank the participants who took part in this study and made it possible. The SGENE consortium and its affiliated groups include deCODE genetics, the National-University Hospital in Reykjavik, the University of Aberdeen, the Ravenscraig Hospital in Greenock, the Institute of Psychiatry at King’s College London, the National Public Health Institute in Helsinki, the Ludwig Maximilians University and GlaxoSmithKline’s Genetic Research Center in Munich, the University of Copenhagen, the University of Oslo, the University of Heidelberg, the University of Bonn, the University Medical Center of Utrecht, Nijmegen Medical Center, the University of Verona, the Duke University Center for Population Genomics and Pharmacogenetics and the University of Sichuan, China. Follow up cohorts included those from Aarhus University, the National Serum Institute, and Bispebjerg and Glostrup hospitals, Denmark; Semmelweis University, Budapest; the Mental Health Research Center of the Russian Academy of Sciences; the Universities of Valencia and Santiago de Compostela, and the Hospital General Universitario Gregorio Marañón, Madrid, Spain; The Northern Finland Birth Cohort; Karolinska Institutet, Stockholm; Universities of Amsterdam, Utrecht and Maastricht, the Netherlands. The institutions comprising the ISC and MGS can be found in papers published concurrently with the present study in the online edition of Nature.
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.
The study, which involved the analysis of the genomes of some 50,000 patients and controls, is published in the online edition of Nature Genetics and will appear in upcoming print edition of the journal.
The SNP is in the gene encoding claudin 14 (CLDN14), a protein expressed in the kidney and one of a family of membrane proteins that regulate the passage of ions and small solutes between cells. As calcium is a key component both of most kidney stones and of bone, the deCODE team examined the relationship between CLDN14 and the metabolism of calcium. The results suggest that the SNP may be contributing to increased calcium excretion in urine, a major risk factor for kidney stones and also a sign of bone loss.
“This is an exciting finding because it uncovers a highly plausible common biological mechanism leading to two diseases. This offers a potentially attractive new pathway for drug discovery, and the next task is to build on our undertanding of how this SNP increases risk of these diseases and how this pathway could be targeted therapeutically to address this risk. As ever, deCODEme subscribers will see this new variant in their profiles, and we look forward building on this discovery,” said Kari Stefansson, CEO of deCODE.
About kidney stones
Kidney stones are small crystals formed of dissolved minerals, mainly calcium, that form in the kideys. Smaller stones can simply be passed through urination, though larger ones can block the urinary tract, causing considerable pain and bleeding. Kidney stones affect some 5% of women and 10% of men in the industrialized world. Larger stones can be detected with ultrasound screening and broken up to facilitate passage, though the recurrence rate is high.
deCODE would like to thank all those who participated in this study, as well as the collaborating clinicians and scientists from the Landspitali University Hospital in Reykjavik, Iceland, Radboud University Nijmegen Medical Centre in Nijmegen, Netherlands, Nordic Bioscience A/S in Herlev, Denmark and the Center for Clinical and Basic Research A/S in Ballerup, Denmark.
Updates and Improvements in deCODEme with new conditions and features
The deCODEme team has been busy working to update and improve your deCODEme experience. Additions include ABO blood types, Kidney stones, Eye color and Statin-induced myopathy. We have also added a section for feedback and research and a more detailed Male line analysis.
Here is a summary of the additions and changes:
How a deCODEme genetic test helped a heart patient fight prostate cancer

Charles Wallace and his wife believe that a deCODEme Complete Scan helped save Chuck's life when it lead to discovering Prostate Cancer. Click on the picture to see Chuck's story.
Dr. Bradley Bale at the the Heart Attack & Stroke Prevention Center is a big believer in deCODE’s tests for genetic risk factors for cardiovascular disease. As he has for many of his patients, Dr. Bale recommended that Charles Wallace, a 55 year-old Texan, have a full deCODEme scan to understand his risk of a range of conditions, including cardiovascular diseases. The breadth of the risk factors analyzed by deCODEme proved to be very important indeed. Mr. Wallace learned that he was at nearly double the average risk of prostate cancer, a piece of information he and Bale followed up on and that Wallace credits with helping to save his life.
60 Minutes Australia on deCODEme Genetic Testing
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.
deCODE Genotyping Laboratory Receives College of American Pathologists Accreditation
Underscores quality of deCODE’s laboratory and tests, fulfilling key federal and state certification requirements and broadening marketing channels
deCODE genetics CLIA-registered DNA isolation and genotyping laboratory, which processes the company’s deCODEme™ personal genome scans and risk assessment diagnostic tests for several common diseases, has been accredited by the American College of Pathologists (CAP) following a recent inspection. The U.S. Centers for Medicare and Medicaid Services (CMS) has granted the CAP Laboratory Accreditation Program deeming authority, and its accreditations can also be used to meet many state certification requirements.
“We believe that testing for genetic risk factors for common diseases is going to play a central role in refocusing our healthcare system on prevention and early intervention. deCODE has led the way in discovering validated genetic risk factors for diseases with a major impact on public health, and in bringing to market products that put this knowledge in the hands of individuals and their doctors. Quality – in our world-leading science and in-house genotyping and data analysis – sets us apart from our competition in the field of personal genomics. CAP certification serves to emphasize this advantage and will enable us to provide our products to an ever wider public,” said Kari Stefansson, CEO of deCODE.
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deCODE and Celera Partner to Expand Use of deCODE Risk Markers for Heart Attack, Stroke and Diabetes
deCODE genetics and Celera Corporation have announced the signing of agreements under which deCODE has granted Celera non-exclusive worldwide licenses to deCODE’s genetic markers for increased risk of major cardiovascular and metabolic diseases, including heart attack, stroke, atrial fibrillation (AF) and type 2 diabetes (T2D). These markers can be incorporated into laboratory tests for assessing and managing individual risk of these diseases.
“This is an excellent opportunity to broaden the clinical application and commercialization of our discoveries of high-impact genetic risk factors for major diseases. The markers included in these agreements are among the most widely replicated genetic risk factors for cardiovascular and metabolic disease, and they provide a natural complement to the biomarker services already offered by Berkeley HeartLab, Celera’s subsidiary. In Celera we have a partner with a global reputation in human genetics and a large and effective outreach and sales force. We are pleased to have the chance to work with them to build upon our discovery and testing platforms and to accelerate the adoption of personalized medicine,” said Kari Stefansson CEO of deCODE.
March is Multiple Sclerosis Awareness Month
The Multiple Sclerosis Association of America (MSAA) encourages Multiple Sclerosis (MS) Awareness during March 2009.
Multiple sclerosis (MS) is the most common neurological disorder diagnosed in young adults. It is an inflammatory disease of the central nervous system; the brain, nerves and spinal cord, that damages the protective insulation (known as “myelin”) surrounding the nerves. As a result, nerve impulses carrying messages from the brain and spinal cord are disturbed, causing a variety of symptoms such as visual disorders, weakness, dizziness, and various movement disorders, to name but a few.
The causes of MS are not fully understood. With better understanding of the disease, more effective ways will be found to treat it in the future, and hopefully prevent it from occurring in the first place. Significant steps towards better understanding of MS have however been made.
Map of Kinship – An exciting new ancestry feature in deCODEme

The Map of Kinship can be used not only to learn about your relationship to people from the different continents, but also your relationship to populations within the continents.
From a genetic point of view we are all unique, but some individuals are more similar than others. Generally speaking, genetic differences reflect geography. People from the same geographic area tend to be more genetically similar than people from distant parts of the world. This means that the greater your genetic similarity is to a particular population, the more likely you have ancestors that belonged to that group in the past and relatives in the present.
The deCODEme team has recently implemented a new tool, called the Map of Kinship. This tool can be used to explore a person’s ancestry and genealogical relationship to more than 1000 individuals from 53 populations from all over the world.
Genetic test as a Christmas present
Pam Bale knows what she wants to get her three children for Christmas. Two of Pam’s children are in their 20s and the other is 30. In other words, a little too old for video games. So they’re not getting a Wii or Guitar Hero. Instead, Pam wants to surprise her kids on December 25th with a genetic test.
“I think the kit would open up all sorts of doors to their future,” says Pam. “They are young adults, and at their ages the test can show them what medical concerns they might face down the road. They are young enough so they can take the steps to avoid those concerns. It would make their whole future happier and healthier and extend their lives. I think it’s a great gift to give to my kids. So don’t tell them. I don’t want to ruin the surprise.”
For the whole interview with Pam Bale go to deCODEme Customer Stories.
Pam sees DNA test as a gift
After watching her parents and brother suffer with diseases that might have been prevented with the right care, Pam Ayers has become vehemently proactive. She now believes that genetic health scans are the way of the future and early testing could help parents change their own and their children’s life-style for the better. This proud grandmother is taking care of her family.
Read the whole interview with Pamela Ayers in the Customer Stories section of deCODEme.
Time magazine’s Best Inventions of 2008: The Retail DNA Test
deCODE staffers were buzzing about Time magazine’s announcement this week of its best invention of 2008: the retail DNA test. As the creators of deCODEme, the first personal genome scan on the market, deCODE staff members were not about to quibble about the date (deCODEme was actually launched on November 16, 2007).
Indeed, the value of deCODE’s capabilities and service is perhaps best demonstrated by the launch of web portals offering similar services based largely upon deCODE’s discoveries, and Time‘s article underscored the potential of this new field by devoting considerable attention to the high-powered tech luminaries who have come chasing deCODEme’s tail.
But what sets deCODE apart from the pack is not that it was the first personal genome analysis service to hit the market, but that it grew out of the biggest and to date most successful effort to discover the genetic factors that increase individual risk of public health challenges like from heart attack and breast cancer. More than a dozen years of large-scale research in human genetics, with the experience of having analyzed the genomes of hundreds of thousands of people, really does count.
The competition clearly feels the weight of deCODE’s advantage, which Time highlighted last year when it named CEO Kari Stefansson to the Time 100 list for the company’s pioneering work in genetics. As Time quotes the founder of a deCODEme competitor: “We could make great discoveries if we just had more information.” Perhaps, but fortunately with deCODEme the public doesn’t have to wait for the dot-commers to bone up on their genetics.
Congratulations again to the deCODEme team!
deCODEme customer support has your answers
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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Heart attack and stroke prevention: measuring lifetime risk
Amy Doneen at the Heart Attack and Stroke Prevention Clinic in Spokane, Washington, talks about an “exciting new time” for preventive health care. Amy, a nurse practitioner, has been using nutrigenomics (the response of genes to nutrition) as part of the program for more than a decade and with outstanding results. “The goal,” says Amy “is to find out what path a patient is on to developing certain diseases and kick them off that path.” Scanning for risk factor for common conditions (such as diabetes, heart attack, several types of cancer etc.) She emphasizes the importance of gauging lifetime risk as against clinical tests that usually concentrate on immediate high risk. According to Amy, some people walk away from the second kind with a negative result and think things are always going to be fine. Genetic testing is just arriving to the market place, but Americans currently spending nearly $50 billion on stroke care alone, the time is ripe to back all advances in preventive medicine.
To read more and watch parts of the interview with Amy Doneen visit the deCODEme Customer Stories.
The Breast Cancer Network of Strength celebrates 30 years of invaluable support
Attitudes towards breast cancer have changed quite a lot over the past three decades, a fact evidenced by the outpouring of response when stars such as Olivia Newton-John, Kylie Minogue, and, most recently, Christina Applegate, went public with their personal struggles with the disease. But this change in attitude is also reflected in many other ways and not least in the adoption of a new name for the patient advocacy and support organization that until now called itself Y-ME? Tomorrow, a gala event held at the Fairmont Hotel in Chicago will celebrate Breast Cancer Awareness Month and the evolution of Y-ME, 30 years on, into the Breast Cancer Network of Strength-a change they hope that will better communicate the organization’s mission to promote a proactive, engaged and positive approach to fighting breast cancer.
Genetic test will narrow in on predicting baldness
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 »
Breast cancer gene tests explained

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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Iceland wins silver in handball at the Olympics
Icelandic handball has never enjoyed such a high profile in the US press, and deservedly so. Having just won the silver in the men’s Olympic final, Iceland is one of the smallest nations to win any kind of Olympic medal. American and European journalists and bloggers, seemingly never tired with playing up Iceland’s Viking image, appear to have hit the nail on the head this time. Perhaps it is their Viking genes! Read the rest of this entry »
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
Early warning was a blessing

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
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.
BBC – Your DNA’s in the post
deCODE on NBC Nightly News – Part 2
The second part of NBC Nightly News coverage of deCODE genetics and the genetic research conducted with the help of the Icelandic nation. Bazell continues to look at the company he sees as being at the cutting edge of genetic research.
deCODE research on NBC Today Show
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.
The lowdown on deCODE
A look at deCODE, the biotech company in Iceland that is researching genes for common conditions like heart disease, stroke and cancer. Sue Herera interviews NBC’s Robert Bazell on his coverage of deCODE and discusses the scientific, pharmacological and commercial implications of genetic testing.
Originally broadcast July 22, 2008.
Link: Watch the interview.
deCODE research on NBC Nightly News – Part 1
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.
I Want to Live Longer and Better

A maverick businessman and former White House confidant believes that by collecting enough data about his health, he can live to be ripe, old age.
Jack Grayson wants to live to be 113. Actually, the former head of the U.S. Price Commission under the late President Richard Nixon thinks he might be able to reach 150.
“I want to live longer so I can live forever,” says Dr. Grayson, who now runs the highly successful APQC, a private sector, non-profit organization to help American business, health and education sectors improve productivity and remain globally competitive.
How does the former FBI agent and farmer who taught at both Stanford and Harvard plan to live for a century and a half?
Link: Read the whole interview and listen to Jack Grayson talk about his deCODEme experience






















