Two research studies published earlier this month decoded the entire genome of patients to reveal the precise genetic cause of their diseases. The two studies underscore the importance of transformative research and the evolutionary quality of scientific inquiry, the value of cross-disciplinary collaborations, and the lifesaving potential of studies that may sound absurd to outside observers - in this case involving the genetic make-up of the fruit fly.
As The New York Times reported, decoding the genome of patients "may offer a new start in the so far disappointing effort to identify the genetic roots of major killers like heart disease, diabetes and Alzheimer's." The Times continued:
"... common diseases, like cancer, are thought to be caused by mutations in several genes, and finding the causes was the principal goal of the $3 billion human genome project. To that end, medical geneticists have invested heavily over the last eight years in an alluring shortcut. But the shortcut was based on a premise that is turning out to be incorrect. Scientists thought the mutations that caused common diseases would themselves be common." But subsequent research "implies that common diseases, surprisingly, are caused by rare, not common, mutations. In the last few months, researchers have (therefore) begun to conclude that a new approach is needed, one based on decoding the entire genome of patients."
The lead researchers in these two studies are Richard A. Gibbs of the Baylor College of Medicine and Leroy Hood and David J. Galas of the Institute for Systems Biology in Seattle.
Dr. Gibbs is Professor of Molecular and Human Genetics, and Director of the Human Genome Sequencing Center at Baylor. The Center is one of three National Institutes of Health-funded genome centers that were involved in the completion of the first Human Genome Sequence in 2004.
According to Baylor, the Center contributed approximately 10 percent of the total project by sequencing Chromosomes 3, 12 and X. It collaborated with researchers at the U.S. Department of Energy's Lawrence Berkeley Laboratory (which was previously led by current U.S. Energy Secretary Steven Chu) and Celera Genomics to sequence the first species of fruit fly, Drosophila melanogaster. The Center also completed the second species of fruit fly (Drosophila pseudoobscura), the honeybee (Apis mellifera), and led an international consortium to sequence the Brown Norway rat.
Not only is the collaboration between the Baylor College of Medicine and the U.S. Department of Energy the kind of boundary-crossing collaboration that often energizes transformative research, but their collaboration was focused on research topics that could easily have been ridiculed by critics of basic science research. Imagine the fodder that federally funded research on the genome sequencing of the fruit fly could provide. And yet it's precisely that research that has led to the increased understanding that may ultimately lead to cures to widespread diseases.
Drs. Hood and Galas are similarly boundary-crossing in their research orientations. Dr. Hood earned a medical degree at Johns Hopkins before earning a PhD in Biochemistry at Caltech. He founded and chaired the cross-disciplinary Department of Molecular Biotechnology at the University of Washington, before co-founding the Institute for Systems Biology to pioneer systems approaches to biology and medicine.
Dr. Galas earned a PhD in Physics from the University of California, served as Director of Health and Environmental Research at the U.S. Department of Energy's Office of Science, served as Chairman and Professor of Molecular Biology at the University of Southern California and as Chancellor at the Keck Graduate Institute of Applied Life Sciences, among other involvements before joining the Institute for Systems Biology.
This kind of commitment to cross-disciplinary inquiry and collaboration, and the transformative research that it enables, is exactly what inspired Research Corporation for Science Advancement, the foundation that I head, to create a major new research initiative called Scialog® - a multi-year grant program designed to accelerate the work of 21st-century science by funding individuals or multi-disciplinary teams of scientists to pursue transformational research, in collaboration and dialog with their fellow grantees. The initial Scialog, which will focus on the conversion of sunlight directly into useable forms of energy, will fund grants of $100,000 for individual researchers and $250,000 for qualifying teams of researchers, for a total of $3.2 million.
Transformative risk-taking research and cross-disciplinary collaboration are crucial to ensuring breakthroughs in scientific understanding, and basic science is often at the heart of ground-breaking work. Whenever anyone makes fun of understanding the fruit fly, remember that they may be investigating a disease that you wish would be defeated.
The author, a geneticist, is president and CEO of Research Corporation for Science Advancement (www.rescorp.org), America's second-oldest foundation, begun in 1912, and the first dedicated wholly to science.