Insights are plentiful, but treatments for common diseases are elusive
During a White House ceremony in June 2000, President Bill Clinton announces the completion of the first survey of the entire human genome.
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By NICHOLAS WADE
updated 8:53 p.m. ET, Sat., June 12, 2010
The Genome at 10: First of Two Articles
Ten years after President Bill Clinton announced that the first draft of the human genome was complete, medicine has yet to see any large part of the promised benefits.
For biologists, the genome has yielded one insightful surprise after another. But the primary goal of the $3 billion Human Genome Project — to ferret out the genetic roots of common diseases like cancer and Alzheimer’s and then generate treatments — remains largely elusive. Indeed, after 10 years of effort, geneticists are almost back to square one in knowing where to look for the roots of common disease.
One sign of the genome’s limited use for medicine so far was a recent test of genetic predictions for heart disease. A medical team led by Nina P. Paynter of Brigham and Women’s Hospital in Boston collected 101 genetic variants that had been statistically linked to heart disease in various genome-scanning studies. But the variants turned out to have no value in forecasting disease among 19,000 women who had been followed for 12 years.
The old-fashioned method of taking a family history was a better guide, Dr. Paynter reported this February in The Journal of the American Medical Association.
Big promise
In announcing on June 26, 2000, that the first draft of the human genome had been achieved, Mr. Clinton said it would “revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases.”
At a news conference, Francis Collins, then the director of the genome agency at the National Institutes of Health, said that genetic diagnosis of diseases would be accomplished in 10 years and that treatments would start to roll out perhaps five years after that.
“Over the longer term, perhaps in another 15 or 20 years,” he added, “you will see a complete transformation in therapeutic medicine.”
The pharmaceutical industry has spent billions of dollars to reap genomic secrets and is starting to bring several genome-guided drugs to market. While drug companies continue to pour huge amounts of money into genome research, it has become clear that the genetics of most diseases are more complex than anticipated and that it will take many more years before new treatments may be able to transform medicine.
“Genomics is a way to do science, not medicine,” said Harold Varmus, president of the Memorial Sloan-Kettering Cancer Center in New York, who in July will become the director of the National Cancer Institute.
Discoveries of mutations
The last decade has brought a flood of discoveries of disease-causing mutations in the human genome. But with most diseases, the findings have explained only a small part of the risk of getting the disease. And many of the genetic variants linked to diseases, some scientists have begun to fear, could be statistical illusions.
Bobby Yip / Reuters file
Researchers work on pork at the Beijing Genomics Institute in Shenzhen, southern China, in March.
The Human Genome Project was started in 1989 with the goal of sequencing, or identifying, all three billion chemical units in the human genetic instruction set, finding the genetic roots of disease and then developing treatments. With the sequence in hand, the next step was to identify the genetic variants that increase the risk for common diseases like cancer and diabetes.
It was far too expensive at that time to think of sequencing patients’ whole genomes. So the National Institutes of Health embraced the idea for a clever shortcut, that of looking just at sites on the genome where many people have a variant DNA unit. But that shortcut appears to have been less than successful.
The theory behind the shortcut was that since the major diseases are common, so too would be the genetic variants that caused them. Natural selection keeps the human genome free of variants that damage health before children are grown, the theory held, but fails against variants that strike later in life, allowing them to become quite common. In 2002 the National Institutes of Health started a $138 million project called the HapMap to catalog the common variants in European, East Asian and African genomes.
With the catalog in hand, the second stage was to see if any of the variants were more common in the patients with a given disease than in healthy people. These studies required large numbers of patients and cost several million dollars apiece. Nearly 400 of them had been completed by 2009. The upshot is that hundreds of common genetic variants have now been statistically linked with various diseases.
But with most diseases, the common variants have turned out to explain just a fraction of the genetic risk. It now seems more likely that each common disease is mostly caused by large numbers of rare variants, ones too rare to have been cataloged by the HapMap.
Saturday, June 12, 2010
Monday, June 7, 2010
What Men Love About Women
Is it the way you comb your hair? The stylish clothes you wear? Redbook's guy columnist reveals what really makes your man's heart melt.
By Aaron Traister
A pastor, a U.S. Marshal, a rabbi, a lawyer, and a guy who writes a column for a women's magazine all found themselves in the same Irish bar. Is this the beginning of the worst joke ever told? Perhaps, but it's also a totally true tale of masculine diversity uniting and bridging political, cultural, religious, and philosophical differences in an unprecedented attempt to answer the burning question on every woman's mind: What do men love so much about women?
You guys may think we dig you because you have a great sense of humor, look hot, or can make a mean macaroni salad — and those are certainly lovable qualities. But they aren't really what we love most about you. Several hours of discussion, many beers, and more than a few plates of chicken wings later, I was able to compile my list. (Then we all hugged. It was kinda weird.)
Anyway, without further ado — or further awkward stories about men hugging — I present a list of the things we men really love about our wives, created from the weepy declarations, tipsy ramblings, and uncomfortable announcements I culled from my "Focus Group of Manliness."
We love it when you take control.
It might seem like we hate it when you're bossy, but really, we only hate it when you boss us around. When you get badass with other people, it's totally hot. My wife was working from home the other day, and while she was on a conference call, I listened to her chew someone out for screwing up. She didn't yell or get nasty, but she made sure the person knew how displeased she was, and then completely shut down any excuses they tried to make; by the end of the call she had them apologizing. She was in total control, and everyone on the call knew it. It was at that moment that I realized my wife is a professional badass — and that I find it ridiculously sexy.
We love watching sports with you — sort of.
While we consider watching sports mostly a guy thing (because of the cursing and the gluttony), every now and then we are happily surprised by your interest in and enthusiasm for our favorite athletic competition. "There is one sporting event every year that I love sharing with my wife: filling out our NCAA men's basketball tournament brackets," my lawyer friend explains. "We've been filling out our brackets together every March since we first started dating. She was a 'bracket virgin' before we met, but now her enthusiasm for picking teams is pretty amazing. She chooses with her heart using a complicated system of geography, underdog status, and familial connections. Her brackets are an example of who she is — they are all about loyalty, hope, and happy memories. Her sense of conviction is so strong, it can make you believe that Lehigh has a shot against Kansas. How can you not love that?"
We love that you don't want us to die — yet.
I recently went to the doctor for a checkup and learned that my overall physical assessment had changed from "in the danger zone in several key categories" to "facing imminent demise." Forgetting the childhood lesson learned from that hoagie-loving über-husband, Cliff Huxtable, and his hoagie-denying über-wife, Clair, from The Cosby Show, I made the mistake of telling my wife about the diagnosis. So now every morning and evening, my wife makes me a greenish-brown "smoothie" to drink. It's made from things like kale, flax seed, and spinach, and it has the consistency of motor oil. It's so bad it makes my taste buds feel ashamed.
And yet my wife dutifully makes it for me, twice a day, because it's packed with my daily servings of fruits and vegetables. Karel is a smart, successful, and energetic woman who would do just fine without me. Every time I drink one of her sickly-Yoda-colored drinks, it's like a little reminder that she doesn't want to do just fine without me — she wants to do just fine with me. And I love that.
We love that we know everything about you (and vice versa).
Everyone in the Focus Group of Manliness agreed that after X years of marriage, there is very little we don't know about our wives or they don't know about us. But even though our relationships may lack mystery, we all love that you know exactly how we feel at a particular moment and why we feel that way. And we also love knowing how you feel at a particular moment and why you feel that way. That kind of intimacy is like a big plate of waffles on a cold morning. It might be syrupy sweet and make you fat and lethargic, but it's comforting, heartwarming, and delicious. And if you pair it with some fried chicken, it can also become sorta sexy. To be honest, I don't know what the fried chicken in this metaphor represents. I just really like fried chicken and waffles.
We love that you talk our ears off.
When I'm not yakking about why I love my wife over a plate of wings and some beers with the guys, I'm actually pretty quiet. For me, there is something soothing about how much my wife talks. It's like she's doing the talking for the both of us. It's relaxing. Her constant talking is like having a rerun of my favorite TV show on in the background after a long day: It's familiar and funny and you can kind of tune in and out as you unwind.
We love how you solve problems.
The rabbi describes the way his wife tackles obstacles as full of drama: She rages, she cries, she internalizes everything. Her system of problem-solving takes a long time and involves making everything personal and leading with her emotions in a quest to see how she would feel about each possible solution. It is apparently a very stressful process. In contrast, the rabbi's problem-solving method is to just try to find the fastest fix. When I asked him why he preferred his wife's method, he said it was because "her decisions always end up being the right ones, whereas mine always end up being the quick ones."
We love you — even in your sweats.
There is something to be said for the things in life that are effortlessly sexy. Sometimes lingerie and Princess Leia outfits feel forced, which can make everything that follows feel a little awkward. My wife has a ratty pair of sweatpants that she's owned since before we were even dating, and they are just about the sexiest thing on the planet. By some amazing alchemy of time blended with constant usage, these sweats have totally conformed to the shape of her body. They have holes above the pockets that show off the swoop of her hips and they have somehow managed to maintain their shape in the back so that they accentuate one of her finest features. I would take this pair of sweatpants over lingerie or Princess Leia outfits the majority of the time. Which is why it wasn't that my wife was all glammed up the first night we slept together that made me think we could be physically compatible for the long haul — it was the fact that I wanted her just as badly the next morning.
We love that you love us.
When asked what's the most surprising thing that he loves about his wife, the U.S. Marshal says simply, "that she puts up with me." 'Nuff said.
Comment
I have known a woman who looked INCREDIBLY sexy wearing one of my dress shirts - only. She also looked fabulously sexy in one of my tee shirts. I LOVE women who cook well, and are interested in good, healthy eating. I truly like it when they know me so well, and vice versa, that just a knowing look is all that's necessary for us to communicate. I also like it when she picks lint off my clothes. I really like a big, beautiful smile. I am incredibly attracted to women that I can really discuss some important aspects of some sport. My best friends wife is who I go to for information regarding FSU's football prospects for the coming year. She knows all the positions, and the players; their strengths and weaknesses, and how they can help the overall team. That I find to be terribly attractive. I am constantly amazed how women can be sexy in so many ways - a look, a touch, a pose, a flash, a joke, a perceptive comment, a smile, a smell... the list is endless. I love women who are passionate about something, anything, almost. I am not crazy about people who use their passions in negative or destructive ways ie racists, snobs, sexists, etc. I am not well-versed or even all that interested in fashion. I know what I like and it's usually pretty simple and straight-forward.
By Aaron Traister
A pastor, a U.S. Marshal, a rabbi, a lawyer, and a guy who writes a column for a women's magazine all found themselves in the same Irish bar. Is this the beginning of the worst joke ever told? Perhaps, but it's also a totally true tale of masculine diversity uniting and bridging political, cultural, religious, and philosophical differences in an unprecedented attempt to answer the burning question on every woman's mind: What do men love so much about women?
You guys may think we dig you because you have a great sense of humor, look hot, or can make a mean macaroni salad — and those are certainly lovable qualities. But they aren't really what we love most about you. Several hours of discussion, many beers, and more than a few plates of chicken wings later, I was able to compile my list. (Then we all hugged. It was kinda weird.)
Anyway, without further ado — or further awkward stories about men hugging — I present a list of the things we men really love about our wives, created from the weepy declarations, tipsy ramblings, and uncomfortable announcements I culled from my "Focus Group of Manliness."
We love it when you take control.
It might seem like we hate it when you're bossy, but really, we only hate it when you boss us around. When you get badass with other people, it's totally hot. My wife was working from home the other day, and while she was on a conference call, I listened to her chew someone out for screwing up. She didn't yell or get nasty, but she made sure the person knew how displeased she was, and then completely shut down any excuses they tried to make; by the end of the call she had them apologizing. She was in total control, and everyone on the call knew it. It was at that moment that I realized my wife is a professional badass — and that I find it ridiculously sexy.
We love watching sports with you — sort of.
While we consider watching sports mostly a guy thing (because of the cursing and the gluttony), every now and then we are happily surprised by your interest in and enthusiasm for our favorite athletic competition. "There is one sporting event every year that I love sharing with my wife: filling out our NCAA men's basketball tournament brackets," my lawyer friend explains. "We've been filling out our brackets together every March since we first started dating. She was a 'bracket virgin' before we met, but now her enthusiasm for picking teams is pretty amazing. She chooses with her heart using a complicated system of geography, underdog status, and familial connections. Her brackets are an example of who she is — they are all about loyalty, hope, and happy memories. Her sense of conviction is so strong, it can make you believe that Lehigh has a shot against Kansas. How can you not love that?"
We love that you don't want us to die — yet.
I recently went to the doctor for a checkup and learned that my overall physical assessment had changed from "in the danger zone in several key categories" to "facing imminent demise." Forgetting the childhood lesson learned from that hoagie-loving über-husband, Cliff Huxtable, and his hoagie-denying über-wife, Clair, from The Cosby Show, I made the mistake of telling my wife about the diagnosis. So now every morning and evening, my wife makes me a greenish-brown "smoothie" to drink. It's made from things like kale, flax seed, and spinach, and it has the consistency of motor oil. It's so bad it makes my taste buds feel ashamed.
And yet my wife dutifully makes it for me, twice a day, because it's packed with my daily servings of fruits and vegetables. Karel is a smart, successful, and energetic woman who would do just fine without me. Every time I drink one of her sickly-Yoda-colored drinks, it's like a little reminder that she doesn't want to do just fine without me — she wants to do just fine with me. And I love that.
We love that we know everything about you (and vice versa).
Everyone in the Focus Group of Manliness agreed that after X years of marriage, there is very little we don't know about our wives or they don't know about us. But even though our relationships may lack mystery, we all love that you know exactly how we feel at a particular moment and why we feel that way. And we also love knowing how you feel at a particular moment and why you feel that way. That kind of intimacy is like a big plate of waffles on a cold morning. It might be syrupy sweet and make you fat and lethargic, but it's comforting, heartwarming, and delicious. And if you pair it with some fried chicken, it can also become sorta sexy. To be honest, I don't know what the fried chicken in this metaphor represents. I just really like fried chicken and waffles.
We love that you talk our ears off.
When I'm not yakking about why I love my wife over a plate of wings and some beers with the guys, I'm actually pretty quiet. For me, there is something soothing about how much my wife talks. It's like she's doing the talking for the both of us. It's relaxing. Her constant talking is like having a rerun of my favorite TV show on in the background after a long day: It's familiar and funny and you can kind of tune in and out as you unwind.
We love how you solve problems.
The rabbi describes the way his wife tackles obstacles as full of drama: She rages, she cries, she internalizes everything. Her system of problem-solving takes a long time and involves making everything personal and leading with her emotions in a quest to see how she would feel about each possible solution. It is apparently a very stressful process. In contrast, the rabbi's problem-solving method is to just try to find the fastest fix. When I asked him why he preferred his wife's method, he said it was because "her decisions always end up being the right ones, whereas mine always end up being the quick ones."
We love you — even in your sweats.
There is something to be said for the things in life that are effortlessly sexy. Sometimes lingerie and Princess Leia outfits feel forced, which can make everything that follows feel a little awkward. My wife has a ratty pair of sweatpants that she's owned since before we were even dating, and they are just about the sexiest thing on the planet. By some amazing alchemy of time blended with constant usage, these sweats have totally conformed to the shape of her body. They have holes above the pockets that show off the swoop of her hips and they have somehow managed to maintain their shape in the back so that they accentuate one of her finest features. I would take this pair of sweatpants over lingerie or Princess Leia outfits the majority of the time. Which is why it wasn't that my wife was all glammed up the first night we slept together that made me think we could be physically compatible for the long haul — it was the fact that I wanted her just as badly the next morning.
We love that you love us.
When asked what's the most surprising thing that he loves about his wife, the U.S. Marshal says simply, "that she puts up with me." 'Nuff said.
Comment
I have known a woman who looked INCREDIBLY sexy wearing one of my dress shirts - only. She also looked fabulously sexy in one of my tee shirts. I LOVE women who cook well, and are interested in good, healthy eating. I truly like it when they know me so well, and vice versa, that just a knowing look is all that's necessary for us to communicate. I also like it when she picks lint off my clothes. I really like a big, beautiful smile. I am incredibly attracted to women that I can really discuss some important aspects of some sport. My best friends wife is who I go to for information regarding FSU's football prospects for the coming year. She knows all the positions, and the players; their strengths and weaknesses, and how they can help the overall team. That I find to be terribly attractive. I am constantly amazed how women can be sexy in so many ways - a look, a touch, a pose, a flash, a joke, a perceptive comment, a smile, a smell... the list is endless. I love women who are passionate about something, anything, almost. I am not crazy about people who use their passions in negative or destructive ways ie racists, snobs, sexists, etc. I am not well-versed or even all that interested in fashion. I know what I like and it's usually pretty simple and straight-forward.
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