By now, you’re probably sick of hearing about the 2009 H1N1 flu, also known as the swine flu.  But if you believe you’ve had it, and you’ve already recovered from your symptoms, please take a few minutes to complete our new survey.

There have been heard reports of people holding “swine flu parties” in hopes of getting the “mild form” of the H1N1 virus.  But there’s really only one H1N1 virus out there.  Any variability has to do with how people’s bodies are reacting to it. (BTW: The CDC says this is one kind of party you definitely want to skip!)

Some who’ve been infected with H1N1 have suffered from nothing more than a few miserable days stuck in bed.  For others, the virus has caused severe illness resulting in hospitalization and even death.  Some of these differences have to do with age, gender and pre-existing disease burden.

But there are probably genetic factors at work too. A study published just today shows that human cells have proteins that seem to be natural flu fighters.  The researchers who made this discovery suggest that genetic changes that affect the levels of these proteins could determine different levels of vulnerability to the H1N1 virus.

By asking our large and diverse group of customers about their experiences with the flu, and then correlating this information with their genetics, 23andMe hopes to help scientists continue to unravel the mysteries of H1N1.  Genetic markers indicating a propensity for an especially severe reaction to the flu could someday be used to identify people in need of extra attention during outbreaks.  And learning more about the flu in general might lead to new management strategies that could benefit us all.  So please, take a few minutes to answer our H1N1 Survey.

P.S. If you don’t think you’ve had the swine flu this year, don’t worry – there are plenty of other surveys for you to take.  You can always participate in this new survey if you do happen to get sick (though we hope you don’t!).

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From alchemists and the Philosopher’s Stone to Ponce de Leon and the Fountain of Youth, history is full of stories of people searching for a way to extend life indefinitely.  In recent years, discoveries about the biology of aging have brought us closer to that dream than ever before.  Now 23andMe is asking you, our customers, to help push science even further by participating in our new Longevity Survey.

Human life expectancy is now close to 78 years. Back in 1900, the average person was expected to live only about 47 years.  The oldest person so far whose age was verified by official documents was Jeanne Calment of France, who died at the spectacular age of 122 in 1997, but one aging researcher at the University of Texas Health Science Center has bet that someone will have lived to be 150 years old by the year 2150! Our improved understanding of health and human biology, including the development of antibiotics, has helped to fuel this huge increase in how long we expect to live.

We all know that environmental factors and lifestyle factors are important when it comes to attaining a ripe old age.  You have to eat right, exercise enough, and avoid all those vices like smoking and too much drinking.  But it’s not all what you do and how you live that determines whether you’ll live a long life, and if you do, whether you’ll be in good shape.  Genes are involved in aging as well.

A lot of the work on understanding the genetic factors involved in aging have been done in laboratory animal models.  Mutations in a gene called daf-2 in soil worms can double their lifespan.  Similar mutations can make fruit flies live up to 80% longer, and mice 30% longer than normal.   Daf-2 makes a protein that’s similar to one that binds insulin, the hormone that regulates glucose intake from your blood.  Some have speculated that daf-2 mediates the the longevity effects of dietary restriction (consuming a significantly reduced number of calories without malnutrition), which has been shown to extend the lifespan of both mice and monkeys.

That’s all well and good if you’re a worm or a fly or a mouse, but what about people?  Well, there’s some progress in understanding aging in us too.  Studies have shown that variants in the APOC3 gene and the FOXO3A gene are associated with longevity.  On the flip side, researchers have discovered that  mutations in the RECQL2 gene cause Werner’s syndrome, a disease that manifests as accelerated aging.

Our DNA is likely to hold many more of the secrets to living a long, healthy life.  That’s why 23andMe wants to do research to understand more about what genes can tell us about aging and longevity.  We’re working with experts in aging research from across the country, and you can join us!  Start by taking our Longevity Survey, which simply asks about the ages of some of your family members.  Hopefully together we can make discoveries that will help people enjoy even more healthy golden years.

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Here’s how it goes for me: a few afternoons a year, usually when I haven’t slept or eaten right, but sometimes for no apparent reason, I begin to sense a pressure behind my left eyebrow and to feel queasy. By now I know what’s coming, and I resign myself to another miserable evening and a coming day or two lost to indistinctness. I rush home and secrete myself in the coolest, darkest spot I can find, because for each of my senses the volume seems to have been cranked to amphitheater-level. I lie there for four or five hours, a dog on a leash, thinking grim thoughts and, despite myself, yelping every now and again when the pain ratchets up. Perhaps you know somebody with migraine and are familiar with the vocabulary they use to capture the experience: ‘throbbing’, ‘nauseating’, ‘excruciating’ and the like. All true. Respite comes only when my stomach has had too much and returns my lunch — normally one wants to avoid this outcome, but here I welcome it, court it even, which I’ve always found darkly funny. Then I fall into a dreamless sleep. While some don’t have it as bad as me, many have it far worse.

With the launch of our new migraine headache survey today, we at 23andMe invite you all to share your headache experiences, whether you’re one of the lucky few who’s never had even a little one or someone who must deal with the threat of migraine pain on a daily basis.  You needn’t be a 23andMe customer to take the survey (although we recommend it). All you need is a free 23andMe account.

Migraine headaches are nasty things. The common feature is a terrible pulsing pain emanating from inside the skull, usually just on one side, but apart from this everyone experiences them a bit differently. Some unlucky folks get them every day, while others get them just once a year. Migraines can last for a few hours or can pound on for days at a time. Then there is the menagerie of symptoms that can accompany the headaches, including nausea, vomiting, visual or aural illusions, and aversion to light, smell, touch and/or sound. Perhaps most variable across people are the causes of the headache, or triggers. For one person the triggers might be red wine or nuts, for another they might be stress, bright lights, or noise.

There is a wide array of treatment options for migraine. With guidance from their doctors, most migraine sufferers nowadays are able to find partial or full relief from their headaches. Despite the effectiveness of these treatments, the basic biology of the disease is not well-understood¹,  and migraine continues to exact a tremendous physical and economic toll on our society².

Two prominent migraine researchers have suggested that the blame for the slow progress in understanding migraine lies with a systemic lack of public funding for migraine research. They argue that the relatively recent, and incomplete, acceptance of migraine by the medical and research communities as a genuine medical problem, as opposed to mere melodrama, has led migraine’s funding to lag well behind that for diseases of similar impact. For example, they estimate that while $13.80 is spent for each sufferer of asthma, just 36 cents of federal research funds are spent per migraine sufferer.

The genetics of migraine are also only partially understood. That’s where our new survey comes in. Our community-based research program 23andWe seeks to empower the public to engage in genetic research from the ground up. We know our efforts cannot substitute for proper federal support of migraine research, but evidence of great public interest, plus a new finding or two, would add to our understanding of the disease and potentially send a message to Washington.

With all haste, then, please head over to the new migraine survey and be counted!

Footnotes:

1. What is understood of its biology and chemistry is fascinating, and summarized well here.
2. Nearly 40 million people in the US, and a similar number in Europe, suffer from migraine, roughly one in every ten people. Migraine occurs in women about three times more commonly than in men. Migraine is estimated to cost  around $23BN/year in the US and Euro27BN/year in Europe in direct medical costs and in indirect costs, such as lost productivity.

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We started 23andMe with a simple, yet expansive, vision: to take DNA into the mainstream.  In order to demystify genetics, we thought the best approach was to give individuals access to their genomes and help them gain personalized insight into their own unique code.  This was our premise when we launched a year and a half ago.  We now have

an expanding community of individuals, armed with their genetic profiles, who are the early adopters of what we believe will become standard practice — having ready access to vitally important information.

We’re now moving into the next phase of our mission:  to provide a wholly new research platform that enables our online community to voluntarily participate in unprecedented genetic studies.  Our approach is new because it leverages the web to bring people together from all over the globe who are willing to share information about their own health experiences (phenotype), which is then combined with their genetic profile (genotype).  This combination, genotype + phenotype, is the same formula that drives genome-wide association studies (GWAS). But ours is a community-centric model that also delivers on-going, valuable feedback to each member.

Scientists have only recently had the ability to conduct GWAS, owing to tremendous advances in the technology platforms that generate the data, as well as spectacular decreases in the cost.  These studies are now yielding compelling results in the examination of many common diseases and are chipping away at the elusive genetic components of conditions such as type 2 diabetes, heart disease and many of the cancers.  These diseases aren’t like single gene disorders (such as Tay-Sachs, cystic fibrosis and sickle cell anemia) in which the genetic story is straightforward.  Most common diseases have complicated genetic as well as environmental components, and teasing out these factors is painstakingly difficult.  This also holds true for the study of genes and drug response (pharmacogenetics), the holy grail of personalized medicine.

One of the biggest challenges in conducting GWAS is identifying large enough cohorts of people with a disease or trait, and then being able to categorize the details of their symptoms and progression.  Combine this with the complexity of multiple genetic factors, each with a relatively small effect but somehow working in concert, and it becomes maddeningly difficult to put two and two together.  This is why these studies require very large numbers of enrolled individuals, to achieve the statistical power required to make any headway.  If researchers are limited to a defined geographic region in which to recruit patients, they often can’t reach the bar.  This often leads to consortia-based projects, where multiple clinical centers combine resources.  The problem with this model is the lack of continuity between the groups, not to mention the power struggles that often ensue: Who writes the grant? Which lab runs the samples? Who controls the rights to the data?  Which institute files and maintains the patents? Who is the lead author on the publication?

Our goal is to greatly simplify the entire process.  By centralizing the recruitment of individuals, the lab work and the collection of phenotypic data, we believe we’ll be able to move beyond traditional hurdles and take GWAS to a whole new level that we’re calling Research 2.0.  We think the study of human disease and drug response deserves the application of 21st century technology, including the use of social networking tools proving so effective in web-based sharing of information à la Facebook and YouTube.

So today we are announcing the first of many studies we plan to undertake.  Parkinson’s disease has all the elements described above:  complicated genetics, hints of environmental triggers, varying rates of progression, differing drug response.  We’re excited, and gratified, to have Sergey Brin’s support, as well as the cooperation of The Parkinson’s Institute and The Michael J. Fox Foundation, in jump-starting the world’s largest study of this disease — involving 10,000 individuals with PD.  Please visit our Parkinson’s Community for more information on this ground-breaking project.

This is just the beginning of our mission to establish a new paradigm that changes the face of research, and focuses on the people rather than the process.

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Genome wide association (GWA) studies of SNPs are helping scientists learn about the underlying biology of many complex diseases. But even the most enthusiastic proponents of this relatively new type of research admit that many studies simply can’t find genetic variations that have real, but very small, effects.  This means information that might be useful for diagnosis, prevention or treatment of a disease is being left on the table. The 23andMe research initiative, 23andWe, is one way of addressing this problem.

Researchers from Children’s Hospital of Philadelphia have devised a different method.  Instead of focusing on individual SNPs, they are grouping SNPs together by gene pathway — collections of genes known to work together – and using sophisticated mathematics to identify those groups that appear to be related to disease status.

Using this approach, the researchers have identified the IL12/IL23 pathway — a collection of genes involved in regulating the immune system – as important in Crohn’s disease. Their results, published online today by the American Journal of Human Genetics, not only show the utility of their new method, but may point the way toward the development of new treatments for Crohn’s disease.

“Our study suggests that examination beyond individual SNP hits, by focusing on genetic networks and pathways, is important to unleashing the true power of GWA studies,” the authors write.

The researchers used data from four previous GWA studies for their analysis.  Three of the studies were done in people with European ancestry, and the fourth was a small study of African Americans.

“Despite the drastically different association results on the level of individual SNPs across studies, the [IL12/IL23] pathway was consistently picked up as being associated with CD [Crohn’s disease] in all four GWA studies, demonstrating the power and effectiveness of pathway association approach in identifying disease-susceptibility mechanisms,” the author’s write.

It is not completely surprising that the IL12/IL23 pathway was identified as being involved in Crohn’s disease in this study.  Several genes from the pathway have previously been linked to Crohn’s disease through GWA studies.  Treatments that inhibit the protein encoded by the IL12 gene can reduce symptoms in people with Crohn’s disease, in some cases putting them into complete remission.  The authors say that their analysis suggests that more members of this gene pathway – including genes that might never be picked up in a standard GWA study – could also be promising therapeutic targets for the disease.

23andMe customers can learn more in the Crohn’s Disease Clinical Report.

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It’s been an exciting seven months since we launched 23andWe, the arm of 23andMe that gives people an unprecedented opportunity to collaborate with us on cutting-edge genetic research. Since May, the amount of data we’ve collected has grown at a fast and furious pace. For those of us who are used to the difficult and painfully slow accumulation of data in academic research projects, this information explosion has been nothing short of amazing.

From our first baby steps with “Ten Things About You” in May, to our three latest surveys — “Health Habits,” “Where Are You From?” and “What Do You Do?” — 23andWe has undergone some serious evolution. Almost every month, we have published more surveys and developed more features to help make the survey-taking experience simpler, more interesting, and more rewarding. We want to make it easy for our customers to provide truthful, good quality data, as that is the first and most important step towards doing high quality research. A big thank you to all our survey takers—we pledge to constantly work on improving this feature so we can keep you coming back for more.

We’re starting to look at genetic associations with the traits we ask about in our surveys, and we expect to have some exciting ones to report soon. But we’ve already learned some interesting things just by looking at the survey responses themselves. For example, while a few sources suggest that a higher percentage of men are left-handed than women, our data so far suggest that once you control for age this is not the case. It seems like our society is becoming more accepting of us female lefties! We’ve also seen that handedness does indeed significantly correlate with footedness. That is, left-handers are more likely to be left-footed, and right-handers are more likely to be right-footed. Similarly, handedness significantly correlates with ocular dominance, as left-handers are more likely to be left-eye dominant, and right-handers are more likely to be right-eye dominant.

And proving mom right once and for all, we’ve found that a sweet tooth does lead to more cavities. After controlling for sex and age, you’re more likely to report having many cavities (as opposed to few or none) if you reach for either something sweet or something sweet and salty when it’s time for a snack.

How is this kind of information going to usher in the era of personalized medicine? Handedness may seem like a relatively trivial trait, but it is correlated with risk for learning disability, schizophrenia, exceptional mathematical talent and other relevant traits. Understanding the biological underpinnings of what makes us choose one hand over the other for all our most delicate tasks may help us better understand the basis for these other complex traits.

As 23andWe matures we plan to start focusing more directly on health-related traits. Look for surveys in the very near future that ask about various medical conditions whose genetics is not yet understood. By combining the information customers provide in their survey responses with data from our custom chip, we can look throughout the genome for DNA variations linked to many different traits. This method can help us find genes that no one thought would be involved with a particular condition. For example, genome-wide studies on age-related macular degeneration (a leading cause of blindness) recently surprised researchers by identifying associations with genes that make components of the innate immune system. This gave scientists a whole new pathway in which to search for treatments.

We can’t guarantee that we’ll find something useful or interesting with every analysis that we do; science is a game you have to play a lot of times in order to win. But we can guarantee that we will strive to do the best research and that we will share our findings with the scientific community. By contributing to the body of knowledge on human genetics, we believe we can help bring the dream of personalized medicine a few steps closer to reality.

And all we need you to do is take some surveys.

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Since 23andWe debuted in May, we’ve asked our customers about all sorts of things: their hair color, earwax consistency, whether they tend to look on life’s bright side. Sometimes people have been surprised to learn that something like your susceptibility to motion sickness — or even which way the hair swirls on top of your head — may be influenced by genetics.

Now we’re introducing three new surveys that ask our customers a few more thought-provoking questions that could help science understand more about genetics:

1. Our new ancestry survey, “Where are You From?” inquires about the birthplaces of our customers, their parents and grandparents. We’re hoping the survey can help us do an even better job of correlating peoples’ genetics to their ancestral homelands. It could also help us address questions geneticists have had little opportunity to ask in the past, such as how regional genetic differences within the United States may reflect the different ethnic backgrounds of the people who settled in the country. And finally, recent papers such as this one suggest that ancestry information can be vital to any study that tries to associate genes and traits.
2. Our second survey, “Health Habits,” asks about things like exercise, diet, smoking and drug use. It’s not that we want to determine whether there are genetic influences on whether a person smokes (though there probably are) so much as we’d like to know these things so we can see if they are more likely than genetics to account for the way people respond to certain surveys.
3. Researchers often struggle to distinguish between the contributions of nature and nurture when they study things like personality, IQ and athletic ability. Our final new survey — “What Do You Do?” — tries to account for some elements on the nurture side of the gene-environment equation.

These new surveys are a little different from some of the ones our customers have already taken. They’re not going to tell you if you’re less optimistic than average, or whether your tendency to sneeze in bright sunlight makes you a freak of nature (It doesn’t). But they’re just as critical to helping us reach our goal of advancing genetic research. So if you’re a 23andMe customer, we invite you to visit 23andWe and take our latest surveys. And if you haven’t joined the 23andMe community yet, we invite you to read more about 23andWe on our public site.

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Michelle is 23andMe’s curation manager. “Curation” often evokes images of an old scholar in a musty museum categorizing dinosaur bones for museum exhibits. But in the past decade or so, the term has also come to be used to describe scientists, usually in a biological field, organizing and annotating electronic data and scientific publications.

Michelle is part of the content team that brings the genetic associations to customers in the “My Health and Traits” section. She scours the scientific literature to find genotype-phenotype associations that meet 23andMe’s strict criteria (see our white paper on vetting genetic associations), extracts the pertinent information, and builds the company’s association database. As curator, Michelle is responsible for gleaning interesting and relevant facts from a huge volume of available publications, the first step towards 23andMe’s goal of translating and personalizing the latest genetic advances for our customers.

The vast amount of genomic data, and the literature that describes and analyzes this information, is growing everyday. If you are a geneticist or biologist in a related field interested in staying current with this research, without being in a wet lab, consider joining our curation team! You can check out a description of the position on our jobs page.

Michelle on the 23andMe Service:

“My favorite part of the service is being able to participate in the 23andWe surveys. I think that having the opportunity to participate in future genotype-phenotype studies is awesome. Most people don’t have the opportunity to contribute to scientific research efforts; 23andMe provides an easy way to do just that.”

Michelle on Being a 23andMe Employee:

“I came to 23andMe from PharmGKB, an academic pharmacogenomics data base. I was excited about the prospect of providing genomic information to non-scientists through 23andMe. I think it is so important for people to be able to understand the advancements, and limitations, of current research in genomics and genetics, as well as the implications for them personally. I am excited to be a part of a company that is motivated not only to provide people their own genetic data, but to explain what the current research means.”

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Meet Marcela, a product manager at 23andMe. A product manager represents the customer’s needs while also considering engineering constraints and business requirements. Her most recent projects were focused on building the user experience of those who participate in research through 23andWe and helping to build the burgeoning 23andMe community.

Marcela on the 23andMe Service:

“I was born in South America, but both my mother’s and my father’s ancestors came from Japan. I found it unsurprising to learn that my paternal haplogroup was one that is only found in Japan today, and that one-third of the Japanese population can trace its paternal ancestry to the people who first arrived in Japan, crossing an ancient land bridge that no longer exists. (A woman has the same paternal haplogroup as her father, her brother, or any male in her father’s line. I learned mine by sharing genomes with my father!) However unsurprising it was, though, I was delighted to learn that this piece of history was preserved throughout all the recent migrations in my family. At the same time, I find it fascinating how long-ago migrations are represented in our genetics — through haplogroups and their predicted migrations or the details in Ancestry Paintings, such as the one shown for the sample Uyghur woman.”

“I’m also really passionate about 23andWe. Right now, people think of genetics as a blueprint, as an answer to the question, ‘What are my chances of having a certain trait?’ However, research in genetics is telling us so much more than that now.”

“It’s helping scientists understand more about the pathways involved in certain diseases and it’s leading to changes in health care and treatments. For example, understanding the genetics behind Age-related Macular Degeneration (AMD) caused scientists to start looking at the condition as an immune disorder.”

“Even research on some of the less serious traits on our site can turn out to be extremely valuable — researchers can study traits that are present in a large percentage of the population to learn about the basic mechanisms behind more rare conditions. The work of some scientists studying the photic sneeze (sneezing in the sunlight) could lead to insights into the biology of epilepsy. Studies of caffeine metabolism might lead to greater insights into other, more complicated drug pathways.”

“Another aspect of genetics research is helping us understand who we are and why we are that way. How did culture and biology interact to make some populations lactose intolerant and others not? What other details in human history and migrations will research in genetics uncover? Why is it that 90% of the population (including me) is right-handed? Genetics may answer only a few of these questions, but I’d be amazed to learn those few answers.“

Marcela on being a 23andMe employee:

“I studied Human Biology and Computer Science, and my honors thesis dealt with privacy in genetic databanks. I never imagined that I would find a job that combines my interests in product management, consumer internet software, and genetics.”

“I love the challenges at work. I want to design the experience of using our site so that my parents can easily understand the wealth and detail of genetic information we provide. We balance many different considerations in our site. Privacy is always our primary concern, but we also want people to learn from friends and family members. We want to make scientific studies accessible, but without losing the important details. We provide such a new type of information that we’re constantly building and rebuilding features based on the many perspectives in the 23andMe team and the many pieces of feedback our users send.”

Think you’d like to join the team? Check out our jobs page!

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23andMe is marking the 23rd anniversary of National Breast Cancer Awareness Month this October with an initiative to build a web-based forum dedicated to helping women who face the disease.

Co-founders Linda Avey and Anne Wojcicki told science and business leaders at Fortune’s Most Powerful Women Summit today that we will be creating a specific breast cancer network within 23andWe, the research division of 23andMe.

“Great strides have been made in targeting treatment for breast cancer,” said Linda Avey. “We’d like to build on this progress, and we believe that by creating a web-based forum that enables women to share their experiences, the entire community could benefit and more personalized treatments may ultimately be an outcome.”

Women whose lives have been touched by breast cancer will be able to come together, share their knowledge and offer advice. They will also have the opportunity to participate in surveys that will be used to drive genome-wide association studies aimed at finding out more about the genetic factors that contribute to breast cancer.

“Women who have been recently diagnosed with breast cancer can learn a tremendous amount from women who have already been treated,” said Anne Wojcicki. “By combining the ability to participate in research with the ability to learn from each other, 23andMe hopes to make a significant contribution to this community.”

Breast cancer can affect both sexes, but it is mainly a concern for women—one in eight will face the disease at some point in her lifetime. The National Cancer Institute estimates that in 2008 about 182,500 women will be diagnosed with breast cancer, and close to 40,500 will succumb to the disease.

• To learn more about breast cancer:
  National Cancer Institute
  Susan G. Komen For the Cure
• To learn more about 23andWe, click here.

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