Will his map lead to medical treasure?
Down the hall from Dr. David Altshuler's office, more than 100 DNA sequencers are humming, working 24 hours a day, seven days a week, and churning out enough genetic information to keep him busy for a long, long time.
Not that Altshuler isn't busy now. He is. It's like he's an intern again at Massachusetts General Hospital: racing around, no time to eat lunch, barely a moment to talk. But Altshuler, director of the Broad Institute program in medical and population genetics, isn't complaining.
For someone interested in genetic variations, these are exciting times, Altshuler says, much like the 1960s would have been exciting for rocket scientists. Geneticists are going to the moon, if you will, and Altshuler, 41, is helping to lead the way.
Late last month, he and a team of scientists published a map of the common variations in the human genetic code -- a blueprint of genes that may cause many common diseases, such as hypertension, cancer, and psychiatric problems.
What exactly they will find using this so-called HapMap, Altshuler still isn't sure. Skeptics say it offers scientists only a limited tool. But what's clear at this point, Altshuler said, is that the HapMap will radically increase the pace of genetic knowledge -- and that will help Altshuler answer the question that has been dogging him since medical school: ''Why does one person get sick and another not?"
''That seems pretty obvious," he said recently, ''something at the core of medicine."
But what struck him as a young doctor was that modern medicine still couldn't answer the question definitively. There were environmental factors at play, of course. Things like diet and lifestyle contribute to heart disease and Type 2 diabetes, which, as an endocrinologist, became Altshuler's main focus.
But the answers that Altshuler wanted to know lay deeper inside of his patients. And to get them, he realized he needed to know the genes that made them different, not the genes that made them the same. It was an ambitious goal -- so ambitious, Altshuler said, that many of his peers considered it the equivalent of committing ''career suicide."
''To many people, trying to study 10 million genetic variations would sound like a pretty daunting subject, centuries of work," said Eric Lander, the director of the Broad Institute. But using a rare combination of fearlessness, energy, and intelligence, Altshuler set out to tackle the subject, Lander said, looking at DNA, block by block. Centuries became years. And the elusive answers that once escaped doctors may soon be within their grasp.
''We'll have answers to some questions," Altshuler said, ''within a year."
Picture it like this: Genes are like recipes, and the genome is like a cookbook, holding all the recipes that exist. The thing is, Altshuler explained, not everybody has the exact same cookbook. There are small variations. What calls for a tablespoon of salt in one, asks for a teaspoon in another, and the HapMap tries to account for these differences.
It is the equivalent, Altshuler said, of taking a few hundred cookbooks and finding the places where they are different. ''What we're studying," Altshuler said, ''is variations among people, and that to me is endlessly interesting."
This is why he doesn't have time to eat these days, and why he shows off those churning DNA sequencers down the hall the way a magician might lift a curtain with an excited smile and a wave of a hand.
They are reading the past. They are reading the future. They are working for Altshuler, the short, self-described ''egghead," who wants to know exactly what is wrong with you and why.
Home: Born in Ithaca, N.Y., raised in Newton, and now living in Brookline.
Family: Married to Jill Altshuler with two children, Zachary, 7, and Jason, 5.
Education: Earned a bachelor's degree in biology from Massachusetts Institute of Technology in 1986, a medical degree from Harvard Medical School in 1994, and a doctorate in genetics from Harvard that same year.
Family fact: From 1971 to 1975, Altshuler's father, Alan Altshuler, served as the secretary of transportation for the Commonwealth of MassachusettsAlan Altshuler became dean of the Harvard Graduate School of Design in February. His mother, Julie, has a PhD in education from Harvard.
His science: Scientists can use genetics to determine the cause of disease and to better understand the medications that might help treat or cure that disease. But until the recently unveiled HapMap Project they had not mapped the DNA variations, which may indicate why one person gets a disease and another not. HapMap got its name from the haplotype, a block of DNA that is inherited together.
Hot issue: Altshuler knows his work is controversial in some quarters. Some people want to know, for example, what would it mean for society's perceptions of schizophrenia, depression or obesity, if scientists were to discover specific genes predisposing to these conditions?
To see him: Altshuler will host an interactive discussion about the implications of the HapMap tomorrow at 6 p.m., at the MIT Museum, 265 Massachusetts Ave. The discussion is part of a new series of salon-style conversations called ''Soap Box," presented by the museum in partnership with The Globe. Admission and parking (after 5 in Windsor Street lot) is free. Call 617-253-4444 or go to web.mit.edu/museum.
