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Geneticist George Church wins Franklin Institute award for genome workNov 09, 2010 (The Philadelphia Inquirer - McClatchy-Tribune Information Services via COMTEX) -- Like many visionary ideas, George Church's notion of personal genetic sequencing seemed unrealistic at first, if not downright crazy. Just 10 years ago, the government had spent $3 billion to read the full genetic codes of a handful of volunteers as the basis of the Human Genome Project. That took armies of researchers most of the 1990s to accomplish. It seemed a bit unwieldy to imagine doing this for individual patients. But Church, a geneticist at Harvard Medical School, insisted that it would not only be possible, but would bring the benefits of the genome project to real people, allowing doctors to predict future illnesses and make otherwise difficult diagnoses. In 2008, he announced the launch of what was called the 1000 Genomes Project -- an effort to make genomic sequencing more accessible. It is starting to pay off -- doctors even saved a toddler's life by sequencing his entire genome. On Monday the Franklin Institute named Church the 2011 winner of the Bower Award and Prize for Achievement in Science -- a $250,000 award bestowed each year in April. Six other scientists were named recipients of Franklin Medals for individual fields. The Franklin Institute has been giving these awards since 1824 -- and past winners include Albert Einstein, Orville Wright, and Marie and Pierre Curie. In an interview, Church said there had been a backlash against genetics in recent years as people have begun to ask why we haven't seen all the cures for cancer, Alzheimer's, and heart disease promised by promoters of the Human Genome Project. But a new understanding may change that. Until recently, most geneticists thought the common spelling variations between one person's genetic code and another's would explain why one person got heart disease and someone else got cancer or stayed healthy at 95. Now, scientists are starting to think it's the rare mutations that kill people. Another biologist who foresaw this, Kenneth Weiss of Pennsylvania State University, summed up the situation with a twist on Tolstoy's quote about happy families: "All healthy families resemble each other -- each unhealthy family is unhealthy in its own way." To find those rare and possibly unique genetic time bombs would seem to require reading the whole genetic code. Thanks in part to Church's 1000 Genomes Project, it now costs only about $2,000 to do that today -- down a factor of about a million from 10 years ago. The journal Nature reported last month that doctors in Wisconsin used genomic sequencing in a desperate effort to help a 3-year-old boy who was hospitalized after his intestines became mysteriously "swollen and full of abscesses." The boy had undergone dozens of surgeries, and yet he continued to decline. The sequencing, ordered as a long shot, revealed a rare mutation in a gene that codes for a protein called XIAP -- involved in the immune system. With that knowledge, the doctors ordered a bone-marrow transplant and the boy began to recover. The Franklin Institute also recognized Church for his contributions to synthetic biology -- the creation of new organisms with stretches of artificial DNA. Church has founded two companies that are using the technology to reengineer bacteria to make fuels. While biofuels and medical genetics may seem like surprisingly diverse ventures for one person, Church said that once you master the art of reading genetic codes, it becomes natural to start using that knowledge to rewrite them. Franklin Institute announces award winners Princeton University physicist and mathematician Ingrid Daubechies won the Franklin Medal for Electrical Engineering for discovering a revolutionary data compression technique. Using something called compact wavelets, her innovation allows us to store electronic images on our computers and phones. Compact wavelets also have applications in remote sensing and surveillance, medical imaging, printing, and scanning. The Franklin Medal for Chemistry went to K.C. Nicolaou, a former University of Pennsylvania professor now working at the Scripps Research Institute in San Diego. He was recognized for finding new ways to synthesize large quantities of substances that are rare in nature. That technique, called total synthesis, has led to synthetic forms of a number of lifesaving drugs, including the cancer drugs Taxol and Calicheamicin and the antibiotic vancomycin. Carnegie Mellon University psychologist John Anderson won the Franklin Medal in Computer and Cognitive Science for a theory explaining how humans perceive, learn, and reason. Called ACT-R (adaptive control of thought-rational), the theory incorporates computer science and neuroscience to show how the mind works. Based on that work, Anderson developed an electronic tutoring system to teach children math and computer science. After experiments proved it works better than traditional textbook learning, it's been used by half a million students in 2,600 schools. This year's Franklin Medal in Earth and Environmental Science went to geobiologist Jillian Banfield for discovering how microbes change the world. Banfield, of the University of California, Berkeley, showed how bacteria living in Earth's crust influence the composition of rocks and can alter soil formation and weathering. Her work is helping scientists predict whether we're likely to find microbial life on Mars and beyond. Inventor Dean Kamen won this year's award for mechanical engineering for devices that help the disabled and otherwise benefit humanity. While the New Hampshire-based inventor is best known for the personal mobility scooter known as the Segway, he's also devised an advanced prosthetic arm, a more maneuverable motorized wheelchair, a portable kidney-dialysis machine, and other medical devices. He's currently working on a new water-purification system to be used in the developing world. The Franklin Medal for physics went to the Italian physicist Nicola Cabibbo, who died in August at the age of 75. Cabibbo was one of the architects of today's theory describing the fundamental constituents of matter and the forces through which they interact. That theory, called the standard model, proposes among other things that the subatomic particles known as protons and neutrons are themselves each made of three indivisible particles called quarks. By the 1960s, scientists were finding experimental evidence that quarks could be transformed from one type into another (there are a total of six types). Cabibbo's work showed how this could happen in a way that was consistent with the rest of the standard model. To do that, he devised a parameter called the Cabibbo angle. Later, Japanese physicists expanded on that to create the Cabibbo/Kobayashi/Maskawa (CKM) matrix. In 2008, Makoto Kobayashi and Toshihide Maskawa won the Nobel Prize in physics for the CKM matrix. A number of physicists expressed dismay that Cabibbo didn't share the Nobel. Contact staff writer Faye Flam at 215-854-4977 or [email protected] Contact staff writer Faye Flam at 215-854-4977 or [email protected] To see more of The Philadelphia Inquirer, or to subscribe to the newspaper, go to http://www.philly.com/inquirer. Copyright (c) 2010, The Philadelphia Inquirer Distributed by McClatchy-Tribune Information Services. For more information about the content services offered by McClatchy-Tribune Information Services (MCT), visit www.mctinfoservices.com, e-mail [email protected], or call 866-280-5210 (outside the United States, call +1 312-222-4544). |