Archive for the 'Human Genome' Category

Human Genomes More Unique Than We Thought; or, Craig Venter Strikes Again

Friday, September 7th, 2007

There is an old saying, “the more you know, the more you know you don’t know.” That’s why now is such an exciting time in the science of genetics and genomics. This week we heard all about how the genome has been sequenced, again.

For the average gal on the street, you may be wondering “Why do I keep reading about how the human genome has been sequenced, again and again? Wasn’t that done years ago? And then wasn’t it done again, with James Watson, one of they guys who discovered DNA?” The details, as with credit card accounts, are in the fine print.

When thinking about DNA and genomes, particularly the human genome, there are all sorts of complicated, creative, beautiful and happenstance things that can happen to DNA that create our own, personal and unique genomes. (more…)

Esther Dyson Gets Personal With Her Genome

Wednesday, July 25th, 2007

Technology visionary Esther Dyson offers up a “Full Disclosure” about her motivation to participate in the Personal Genome Project in today’s WSJ. Along with 9 other science-savvy people, Ether will have her genome sequenced and made public — along with personal health and behavioral information to help put that genetic data into context.

Why expose yourself publicly to achieve a scientific goal, some may ask? Adding faces and high-profile personalities does provide for thoughtful pioneering discussion from experts-as-participants, as Dyson points out. And no doubt it’s a lot sexier to the media and the general public. These 10 individuals are not only pioneering the discussion but they’re helping to engage the larger, lay public in this discourse.

I don’t have any deep secrets or vulnerabilities that would embarrass or create risks for myself, or for relatives who share my genes. … But what about the people who are less fortunate than me? I want to push questions about those less lucky to the fore — and get us all to think about them. It’s not just who gets health care and how it gets paid for, or whether employers can discriminate against people with certain conditions or just a greater-than-average propensity for them. What of someone who has a particular susceptibility to, say, alcohol? Does he pay an extra tax on booze? Or does he get a tax credit for behaving well, while a less susceptible person is denied the opportunity to benefit by behaving “properly”? (Subsidies and penalties cut both ways.) Should people have the right to refuse subsidized medical care and live as they wish? These questions may sound far-fetched, but they won’t be once society knows enough information to start asking them.

Over at Epidemix, Thomas Goetz raises the question, “When people agree to donate their body to science, will their genome be part of the deal? And will that make people even less inclined to donate?”

My question is one that comes out of Esther’s observations about the limits of a research study. (”But if someone has a marker indicating a possibility, not a certainty, of some condition, what should the project do?) One you’ve got your personal genome, who’s going to make sense of it?

Jason says his head is spinning looking at the data of one person’s genome. No doubt graphics and tools are one part of the equation necessary to grapple with the enormity of personal genome data. But it’s all beautiful noise until we can make it useful: medical interpretation, editorial translation, and risk-counseling expertise will be the keys to integrating personal genomes into our lives.

Gene Genie #9: Genetics 2.0

Monday, June 18th, 2007

This edition’s theme is, loosely, Genetics 2.0. Let’s start with the landscape:

Genomes and Haplotypes and SNPS - oh my! Everyone’s who needs to read Keith’s post at Omics! Omics!. He’s given us the perfect primer for everyone who’s read a press release about a new fill-in-the-blank genome-related discovery, and wondered what they were leaving out … of the press release, and their data. This post should be required reading for everyone in my industry.

Do Genetic Association Studies Matter?” Once you’ve done your Omics homework, read Thomas’ post at Epidemix. The short answer: No. Yes. Maybe. Stay tuned. Like many, I’ve stopped blogging about “this gene association just found!” as the press release pile up, and am holding out for “this association just confirmed by multiple, world-wide population studies.” Now the challenge is how to track the studies until a critical mass is reached remains.

One Man’s Junk Is Another Man’s Treasure: GrrlScientist at Living the Scientific Life has a lovely, readable-for-the-non-scientist post about how so-called “junk” DNA actually plays a powerful role in how the genome functions. We’ll keep watching the Encode project to see.

(Dare I mention the growing trend of SNPs associated with risk in non-coding regions, say…TCF7L2 and diabetes risk. Oops did that just slip out?)

Now, what 2.0 might mean for you and your genes: (more…)

James Watson Discovered DNA, Now He’s Got His Genome Sequenced!

Friday, June 1st, 2007

Can you think of any better coda to making the Nobel-prize winning discovery of DNA than to be handed the sequence of your own, personal genome? Better yet, to be the first to ever receive your fully sequenced genome?

Rarely is life that poetic, but yesterday Dr. James Watson was presented with two DVDs (two DVDs?! anyone else think that’s funny?) containing the sequence of his genome by Richard Gibbs, director of the Human Genome Sequencing Center at the Baylor College of Medicine, and Jonathan Rothberg, founder of 454 Life Sciences, which did the sequencing. Upon presentation Gibbs said,

“When we began the Human Genome Project, we anticipated it would take 15 years to sequence the 3 billion base pairs and identify all the genes. We completed it in 13 years in 2003 – coinciding with the 50th anniversary of the publication of the work of Watson and Dr. Francis Crick that described the double helix. Today, we give James Watson a DVD containing his personal genome – a project completed in only two months. It demonstrates how far the sequencing technology has come in a short time.” (more…)

One Gene Difference: Chihuahua Small to Great Dane Giant

Thursday, April 5th, 2007

I can’t help but blog about this, since Dog DNA seems to be such a popular dinner party topic. According to a study to be published tomorrow in Science, the genetic differences between dogs boils down to very little. In fact, just one gene, a “tiny bit of DNA that suppresses the insulin-like growth factor 1 (IGF-1) gene controls dogs’ size. (Try telling my stubborn giant dog that he’s just one gene away from a pug.)

The study’s lead author, Elaine A. Ostrander, is chief of cancer genetics at the National Human Genome Research Institute. Why is this gene exciting to her? Humans have the same gene suppressor, which is suspected of being involved in human dwarfism. Because the IGF-1 controls growth, it will further cancer research.

This isn’t the first time that dog genomic research has helped out humans, and no doubt it won’t be the last. Our trusted companions from hearth and home to laboratory bench….

Read the NY Times article

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Autism, Genes & Odds in the News

Monday, February 26th, 2007

There’s been an interesting flurry of research and discussion about autism and autistic spectrum disorders in the news lately. In the past few weeks, studies about prevalence and genetic correlations have been accompanied by journalism about life for families with autism. Autistic spectrum disorders are a personal area of interest to me, although my life has not been personally touched by them. Here’s a quick round-up of research, profiles, and discussion.

NPR’s “Talk of the Nation”: “Researchers scan the genomes of the largest collection of families with multiple cases of autism ever assembled, looking for common factors. Research in the journal Nature Genetics reports on the initial stages of a project that is hunting for genetic factors in autism The analysis found a region on chromosome 11 that appears to be shared by many of the individuals studied.” Listen to this story

NY Times Magazine, “Her Austistic Brothers.” What is life like for siblings? How autism in the family affects sibs is very different than once thought. “Tarah Perry wishes her brothers would remember to put on deodorant. Other 16-year-olds, after all, don’t need to be reminded of that by their 14-year-old sister. Other families don’t keep a stick of Degree in the glove compartment to enforce deodorant compliance on the way to school in the morning. Granted, Justin and Jason are different from other brothers — they are autistic twins — and Tarah’s family is therefore different from other families, and generally speaking she is perfectly O.K. with that.” Read more

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Does APOE Increase Risk for Cerebral Palsy?

Thursday, February 8th, 2007

That fascinating gene, APOE (for apolipoprotein E), is back in the news again. You’ve probably heard of APOE as an indicator for Alzheimers disease or cardiac disease. (Around 40-65% of patients with Alzheimers have at least one copy of the e4 form of the gene. However, this gene alone doesn’t give a complete picture of risk. Previous comments)

Researchers at Northwestern University have published a study that indicates two fforms of the APOE gene, called e4 and e2, carry increased risk for cerebral palsy. In this cross-sectional study pf 209 children with CP and 209 healthy matched controls, the e4 form increased the overall risk of CP by 3.4-fold and the risk of quadriplegic/triplegic disease by 5.5-fold. Carrying the e2 form, which is much less common than e4, was associated with a 12-fold increased risk of CP.

For me, research like this just underscores the complexity of trying to associate genetic findings with everyday application into our everyday lives. Many people I talk to have the mistaken impression that each gene has one purpose and one effect. Finding a gene means we can find a solution. Like all things, genes are much more complicated than that!

Pediatrics 2007;119:306-313

Pharmacogenetics and the Great Melting Pot

Friday, January 26th, 2007

When I was in grade school in the 1970s we celebrated the bicentennial of the United States. In my memory, it was the biggest, longest birthday party ever. A big theme in our studies before and during 1976 was the US as the “Great Melting Pot” — of people, of languages, of cultures. Schoolhouse Rock even provided the illustrations.

Now it’s the 2000s and, guess what, I’m still talking about the melting pot phenomenon with colleagues. But this time, it’s the melting pot analogy* applies in terms our genes:

“Pharmacogenetics/genomics has the potential to benefit people worldwide and to reduce the health disparities between developing and developed nations. This goal is unlikely to be achieved by relinquishing the notion of personalized drug therapy tailored to individual genetic characteristics–the original promise of pharmacogenetics–in favor of a model (pharmacogenomic?) of population-based drug development and prescription, with all its potential pitfalls, especially when extended to admixed populations in developing or developed nations.”

(more…)

New Genes Continue to Be Discovered

Monday, January 22nd, 2007

How long do you think we will continue open our papers or turn on our radios and learn about a new gene that has been discovered — years, decades or generations?

Chinese scientists at the Tianjin Blood Center have discovered a new gene, one crucial in matching organ transplants. The World Health Organization has named it HLA-B-9518. … Scientists worldwide have found, so far, over 2500 HLA alleles, which are widely used in organ transplant matching, paternity testing, human genetics and other fields.

(From CCTV)

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What We’re Talking About This Week

Friday, January 19th, 2007

Francis Crick. Thanks to Matt Ridley’s recent book, Crick is back as the subject of cocktail party gossip. Recently, I re-read The Double Helix, James Watson’s account of their discovery of DNA. (I have the 1969 edition). The New Scientist has a great podcast interview with Ridley about how Crick was so unlike many great scientists of history: “Gene Genius“, 3 November 2006.

What Would You Do With a $1000 Genome? Nature Genetics asked the question of a five genomic leaders, and a number of bloggers, including RPM over at evolgen. Jason, I think this warrants a public perspective from The Personal Genome….

Waking up Earlier than the Early Bird. A genetic discovery behind familial advanced sleep phase syndrome may shed light on the complicated workings and regulation of the normal body clock. Insomniacs, take note, more hope!

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The Top 6 Genetic Stories of 2006

Thursday, December 21st, 2006

I’d say that this year’s stories ran the spectrum from “what’s in our genome?” to “what does it say about us?” to “what should we do with that information?” Yes, here’s science to policy in six easy pieces!

Diabetes Risk Genes Are Confirmed. The body of research behind this discovery is impressive, covering populations around the world and all hitting publication in a very short window of time. (I think Denise Grady, a health journalist at the New York Times captured this best with the context of a personal perspective.) With news about Americans’ skyrocketing diabetes rates, our overweight children, and our heaviest nation status, you’d think this genetic news would have made a bigger splash. Stay tuned in 2007 and let’s see what happens once testing becomes available.

The FDA Recommends Relabeling Tamoxifen - In October, the FDA met to review a compelling body of research that shows 7-10% of people may not receive medical benefit of tamoxifen, because of their 2D6 genes. This is an historic first for pharmacogenetics: it’s the first time FDA has recommended relabelling for the effectiveness of a drug, not just toxicity warnings (e.g. atomoxetine/Strattera for ADHD). It’s also notable that certain SSRIs, particularly Paxil, interfere with the metabolism of tamoxifen just like these genes do - so taking both Paxil and tamoxifen effectively cancels out the benefit of the tamoxifen. Please indulge me as I proudly say that my company is on the ball - we began providing this genetic test to consumers and doctors in October, right after the FDA’s recommendation came out.

(more…)

BRCA Mutations and Risk for Other Cancers

Wednesday, December 13th, 2006

In the December 6th issue of Journal of the National Cancer Institute, researchers report that BRCA1 and BRCA2 mutations are more common than has been generally thought, and they seem to be associated with a greater risk for a number of cancers.

However, as lead investigator Dr. Harvey A. Risch told Reuters Health,

“For breast and ovarian cancer and perhaps other cancers as well, the lifetime risks for carriers of BRCA1 and BRCA2 mutations are not uniform — they depend on exactly which mutation is carried. Some mutations have higher risks and some have lower risks.”

The risk of cancer also appears to be related to the position of the mutation on the gene.

Abstract: Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin-Cohort Study in Ontario, Canada. Journal of the National Cancer Institute, Vol 98(23), 6 December 2006, pp. 1694-1706(13).

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What We’re Talking About This Week

Wednesday, November 29th, 2006

Copy Number Variation in Our Genome. Over at Evolgen, RPM explains “recent work indicates that there’s also quite a bit of variation amongst individuals in the actual content of their genomes. Such variation is known as copy number variation (CNV) or copy number polymorphism (CNP). What it means is that some people may have one copy of a genomic region, other may have two, and even others may have none.” What does this actually mean? Read RPM’s commentary and Hsien’s explanation. Or, read Reuters’ boiled-down news. Or, check out Nature’s accessible but detailed article.

Proof is Scant on Psychiatric Drug Mix for Young. Many psychiatrists and parents believe that drug combinations or “cocktails” help for conditions such as ADHD. There’s a lot to be debated about this, and when it comes to children, all our concerns about drug risks are amplified. Studies in children are fewer, children’s bodies and minds are evolving, and children don’t usually get to choose for themselves. What do you think? (more…)

And they’re off! The Genomic X Prize

Wednesday, October 4th, 2006

The race is on: $10 million to the first team that develops the technology to sequence 100 genomes in 10 days.

Today the X Prize Foundation announced the $10M award, which is backed by a wealthy Canadian geologist. Writes Antonio Regalado in the Wall Street Journal,

As an encore, the winning team will be paid $1 million more to decode another 100 people’s genes, including a bevy of wealthy donors and celebrities. Already accepted for future decoding: Google Inc. co-founder Larry Page, Microsoft Corp. co-founder Paul G. Allen and former junk-bond king Michael Milken.

The idea behind the star-studded genome race is to drive public interest in DNA research and hasten the age of “personalized medicine,” in which drugs and diets may be tailored to an individual’s genes, says Peter Diamandis, the aerospace entrepreneur who founded the X Prize Foundation, based in Santa Monica, Calif.

I’m taking bets: now how long do you think it will take to reach the $1000 genome?

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Nobel Prize in Medicine Awarded for Genetic Discovery

Monday, October 2nd, 2006

Andrew Z. Fire of Stanford and Craig C. Mello of the University of Massachusettes Medical School wree awarded the Nobel Prize in medicine today. They discovered a process called RNA interference, which is a powerful way to “turn off” the effect of genes. Their discovery has opened the door for new ways to fight a wide range of diseases such as cancer, heart disease, hepatitis and AIDS.

The Nobel Prize website has a wonderful, illustrated explanation of why Fire and Mello’s discovery is so important: DNA - RNA - Protein

Read more about what the recipients and their colleagues are saying: (more…)

UK Biobank Ready for Roll-Out

Wednesday, August 23rd, 2006

The next big biobank just got the go-ahead yesterday and is set to become the worlds’ largest resource. After a successful pilot this spring, the UK Biobank will collect DNA samples from half a million Britons to study genes, environment and health. Their goal is to identify the genetic components of common diseases, including cancer, heart disease, diabetes and dementia. Over the next four years, the UK Biobank will collect blood samples, lifestyle information and follow-up health information and outcomes from volunteers aged 40 to 69.

The Biobank explains how this significant endeavor is possible (props to socialized medicine):

The UK National Health Service treats the single largest group of people anywhere in the world, and keeps detailed records on all of them from birth to death. Consequently, follow-up of UK Biobank participants through routine medical and other records will allow identification of those who develop a wide range of disabling and life-threatening conditions. This will make UK Biobank a uniquely valuable resource.

We may all benefit from this research, though. Researchers from around the world can apply to the UK Biobank for access to the resource. Privacy hounds are assured that strict systems will be in place to protect participants’ privacy.

The Biobank is funded by the British government, the Wellcome Trust medical research charity and other sources, at a cost of ~$115.6 million.

There are now a handful of large DNA banks underway. With each launch or milestone, comes a flurry of discussion about the promises, perils, and privacy concerns of DNA bank research. What do you think this research will or won’t tell us? Personally, I think DNA-based research will soon be ubiquitous, just as tissue-based research is today. Today’s concerns about privacy and ethics will be passé tomorrow as we establish standards and procedures and get used to the idea that DNA is just part of the personal info out there that we have to protect.

Read more:

UK Biobank’s Ethics & Governance Framework
BBC coverage of the pilot launch of the Biobank
DNA bank initiatives in the States

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Nutrigenomic Testing & The GAO Investigation: Clinical Accuracy, Validity, Utility

Wednesday, August 2nd, 2006

Last week, the Senate Committee on Aging had a very public hearing on nutrigenomic testing, four Internet-based companies that offer it, and regulations for at-home genetic tests. The hearing was prompted by a probe conducted by the US Government Accountability Office (GAO).

Interestingly, my colleague Jason was pointing out these issues three years ago, when some of these companies began offering their services. He said, “…nutritional profiling remains a concept under study and is not ready for mainstream consumption.”

In November 2003, Nature ran Erika Check’s article “Consumers warned that time is not yet ripe for nutrition profiling”:

But many scientists argue that it’s far too early for most of these tests to be useful. “The idea of marketing any individual genetic test at this point assumes there is information to justify the use of that test, and we really don’t have evidence that any single genetic marker carries enough information to guide dietary treatments,” says Ronald Krauss, director of atherosclerosis research at CHORI.

Today in Nature, Gene Russo’s article “Home health tests are ‘genetic horoscopes’” provides a tidy bookend:

Advocates of testing point out that the dubious nutrigenetic tests are very different to legitimate, reliable at-home tests for diseases such as cystic fibrosis.

What’s the difference? A key issue that consumers need to look for when considering genetic tests: clinical accuracy, clinical validity, and clinical utility. They mean different things, and for someone considering genetic testing - at-home or otherwise – all three are very important.

Clinical accuracy, also called analytic validity, is the measure of a test’s performance. If a test is looking to see if you carry a particular DNA sequence, clinical accuracy is the degree to which the test will reliably identify that DNA sequence (or the lack thereof). For example, cystic fibrosis testing is over 99% accurate as conducted in certified laboratories. More than 99 out of 100 times, the test won’t incorrectly identify a DNA sequence.

Clinical validity has to do with what a test means. Knowing the DNA sequence isn’t enough; we need to know the degree to which the DNA identifies or predicts a particular condition in order for the test to be meaningful. With cystic fibrosis, we know that if someone inherits two known mutations in the CFTR gene (one from each parent), they will have cystic fibrosis.

Clinical utility. This is the degree to which we can do something in response to knowing about our DNA sequence. If we’ve got a clinically valid test result, we can do things like take preventive steps, make lifestyle decision, choose effective treatment options. If you and your partner are both carriers of CF mutations, you can understand your odds of having a child with CF and make family planning decisions accordingly.

A few other points in this GAO discussion that deserve clarification:

  • Not all at-home genetic tests are nutrigenomic tests. There are at-home tests available for clinically valid tests, such as cystic fibrosis, that are recommended under certain circumstances by medical guidelines from physician organizations.
  • Not all nutrigenomic tests are direct-to-consumer or at-home. Some tests are being offered at wellness clinics and through alternative medicine practitioners, nutritionists, and other healthcare providers.

I think the bottom line is, as with any decision regarding healthcare choices and medical treatments, be smart. Do your research. Consult with your doctor or doctors (second opinions are never a bad thing). If you’re looking for a miracle pill or a crystal ball, you’re probably not going to find it.

Read more:

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The $1000 Genome: A Round-Up

Wednesday, July 26th, 2006

Everyone’s chatting about Nicholas Wade’s latest article on the $1000 genome. Here’s a round-up of interesting comments on the when, how, why and what we can do it:

  • Evolgen points out the important difference between “sequencing” a genome and “decoding” it.
  • The Personal Genome highlights the issue of what we do once we’ve got our affordable, sequenced genome. Once we’ve got our code in hand, who’s going to help us understand and use it, and how?
  • Searching Our Genes talks about how the forces that drive technology and medicine are interacting in pursuit of the genome.
  • The folks over at Gene Expression are asking, “If you could have your genome ’sequenced’ (to a good approximation) for $1000, would you do it? What would you want to know from the data?” State your opinion and see what others have to say.
  • Genetics and Health touches on what we do and don’t know at this point.
  • The Minnesota Gene Pool asks, “What impact will access to the complete genome sequence really have for most people’s medical care?” Genomics gal offers thoughtful discussion.

From my perspective, the value lies in knowing about our genes in context. And that context keeps growing every day. (Scientists Say They’ve Found a Code Beyond Genetics in DNA)

The original article is in the NY Times but free access is about to run out, so get it while you can: The Quest for the $1000 Genome

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DNA Banking: CHOP, Kaiser Permanente

Thursday, June 8th, 2006

Funny that we should be talking about DNA banking this week. Children’s Hospital of Philadelphia, the oldest pediatric hospital in the U.S., just announced the launch of a major program to collect and analyze DNA profiles of up to 100,000 patients. The goal is to build a database of children’s genetic profiles that researchers can study in relation to disease and disease risk, in hopes of developing new diagnostic tests and drug therapies.

Here in the Bay Area, Kaiser Permanente is developing plans for a database of 2 million adults’ DNA profiles. Other institutions in the US and Europe are developing databases focused on environmental polymorphisms, pharmacogenetics, and common adult diseases.

These new DNA banking projects highlight two major advances that, in tandem, have leapfrogged medical discovery: the scientific advances of the mapping of the human genome and the technological advances of microchip technology. By exponentially speeding up researchers’ ability to collect and analyze genetic data, these advances are ushering in a renaissance in medicine.

Not surprisingly, the CHOP and Kaiser projects are intensifying debate about privacy issues and medical ethics when it comes to genetic information. They also raise the issue of patents versus public interest, of which I expect we’ll be hearing a lot more debate.

What do you think — should genetic discoveries be patented by research institutions or private companies, or does this information inherently belong to the public?

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More on Genetics of Chronic Fatigue

Tuesday, June 6th, 2006

This week’s Journal of the American Medical Association has commentary about the research into genes related to chronic fatigue syndrome (CFS). Unfortunately, the full-text article is closed to the public, but you can get a brief excerpt from JAMA online.

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Last Chromosome Is Sequenced

Wednesday, May 17th, 2006

Hot off the press! Scientists just announced the sequencing of the final chromosome in the human genome is complete. This is big news. The sequencing took 150 researchers 10 years to complete.

In 1990, the Human Genome Project launched with a goal of identifying the DNA sequence and genes that provide the “blueprint” for humanity. Chromosome 1 is the largest chromosome, with nearly twice as many genes as the average chromosome. Already, genes on this chromosome have been identified that cause a common form of cleft palate. Research promises that we will soon learn more about common illnesses and diseases like cancer.

Keep in mind that the sequencing is just the first, albeit laborious, step. Now researches get to dig into the data to figure out what the genes on chromosome 1 do, how they interact, and what they mean.

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Genetic Risk for Prostate Cancer Identified

Monday, May 8th, 2006

Scientists have discovered that a common genetic variant appears to increase the risk of prostate cancer in men who carry it. Specifically, it appears to confer a 60% greater risk of prostate cancer, and may also indicate a more aggressive cancer, when cancer occurs.

This discovery may also explain why African American men have higher rates of prostate cancer than others: This gene variation is about twice as common in blacks than it is in whites.

Kari Stefansson, CEO of deCODE ( www.decode.com) (the Icelandic company conducting the research), sums up why this discovery is so significant:

“This is one of the first genetic variants ever found to confer significant risk of a major cancer among the population in general. Most previously identified cancer genes have their effect on cancer risk only in families with a clear family history of cancer, or are only found mutated in tumors. This discovery is important from a medical standpoint because the only firmly established risk factors for the disease until now have been age, family history and ethnicity. As this variant also appears to be associated with the development of more aggressive prostate tumors, a diagnostic test for the variant may enable doctors to make more informed decisions as to how closely they should monitor those who are at high risk, and how aggressively they should treat the disease once it presents.”

This research is online in Nature Genetics, and will be in print in June

P.S. Interestingly, it’s not clear whether the heightened cancer risk comes from the genetic variant itself or from another that lies nearby on chromosome 8. Sometimes genetic discovery is like that — the gene variant that scientists have discovered may just be a marker that travels along with the gene that’s actually causing the risk. (Prof. John Hawkes offers an evolutionary perspective on this.)

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Genes Identified for Chronic Fatigue Syndrome

Friday, April 21st, 2006

Yesterday the Centers for Disease Control and Prevention announced that researchers have identified clusters of genes that appear to be involved in the development of Chronic Fatigue Syndrome. The findings, from the largest and most comprehensive clinical study to date, could lead to a better understanding of CFS.

Specifically, these findings may help with diagnosis, help with the development of treatment drugs, help understand who is at risk for CFS, and help identify preventive measures.

This research underscores both the promise of genomic research and the complexity of it. Genes are rarely a black-and-white issue, and genes rarely work alone. Identifying genes is just the beginning. Understanding how they are expressed, and the factors that affect their expression, is the next step.

Dr. Suzanne Vernon of the CDC has been quoted in the recent flurry of news coverage. She mentions a prior study that distinguished different gene activity patterns between healthy people and people with CFS, and explains: “What we have shown now is that in addition to the differences in gene activity that we know occur, there are actual differences in the genetic makeup — the DNA code — that probably results in the differences in the gene activity and also results in the manifestations of the illness itself.”

Listen to a great investigative report on NPR’s “Morning Edition”

Read news coverage, each has details about the research:
Washington Post
Los Angeles Times
New York Times
Sydney Morning Herald

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    How Will You Celebrate National DNA Day?

    Friday, April 7th, 2006

    April 25 is National DNA Day. A day to celebrate the completion of the Human Genome Project — and the discovery of DNA just 53 years ago.

    National DNA Day is a good excuse to learn the latest about the human genome. The DNA Dolan Learning Center has great online materials for all you science teachers and parents looking for new inspirations. The National Human Genome Research Institute also has info for adults and fun stuff for kids — a webcast, live chatroom, and videos. (You’ll need Real Player installed to view run the videos.)