March 25, 2011 — Coral Gables — Deciphering the genetics behind some of our most debilitating diseases requires researchers to work at what sometimes seems a nonstop pace. But sometimes there’s a moment, even if it’s just an hour or two, when a researcher can pause from the rigorous work of genotyping and other high-tech lab procedures to reflect on achievements.
Last Friday, on a university campus where investigation and teaching often coexist, Margaret Pericak-Vance experienced just such a moment, pausing briefly from “a life’s work” of identifying the genetic risk factors for conditions like Alzheimer’s and autism to accept what is considered the highest honor bestowed by the University of Miami for esteemed research activity: the Provost’s Award for Scholarly Activity.
“This is exceptional because it’s recognition form those with whom you spend time with on a daily basis,” said Pericak-Vance, the Dr. John T. Macdonald Foundation Professor of Human Genomics, referring to the peer-nomination process for the award. “This is recognition from your community.”
With her husband Jeffery Vance, a top geneticist in his own right, by her side, Pericak-Vance joined structural engineer Antonio Nanni and photochemist Vaidhyanathan Ramamurthy as recipients of the 2011 Provost’s Award.
Pericak-Vance has built a career personified by breakthroughs, pioneering, as Miller School Dean Pascal J. Goldschmidt wrote in his letter nominating her for the award, “the development of the approaches required to feed the genomics revolution.”
When she identified the major susceptibility gene for Alzheimer’s disease in 1993, it sparked a major paradigm shift in human genetics research.
“We thought by linking APOE (apolipoprotein E4 allele) with late-onset Alzheimer’s we were home free,” she explained. “But then we found out that the rest of understanding Alzheimer’s was much more difficult. We hit this homerun early on, and since we’ve been watching technology develop. And as more and more technology developed and more genomic resources became available, we’ve slowly been chipping away at this very important disease.”
Discovering the genetic risk factors of disease “really is the promise of the future,” explained Pericak-Vance, who also directs the Miller School’s John P. Hussman Institute for Human Genetics, a center specializing in the search for genes that cause disease.
“We know that disease like Alzheimer’s, multiple sclerosis, heart disease, cancer—they all have a very large genetic component,” she continued. “Now, with the promise of the genomic revolution, we’ve been able to look at these complex diseases, and we’re able to understand the landscape of what’s putting people at risk. A lot of people have these risk genes, but they may not get the disease. There are other things that interact. I like to say no gene is an island. The real promise that genomic medicine has is it puts us on the road to prevention. We can start thinking not just about how to treat these diseases but also how to prevent them. If someone has a high risk for Alzheimer’s, what do they do to help lower that risk in terms of lifestyle changes?”
By using composites to repair existing infrastructure and build new construction, structural engineer Nanni also hopes to bring about change. Professor and chair of civil, architectural, and environmental engineering, he leads a new multi-university initiative—the Center for Integration of Composites into Infrastructure (CICI)—that is examining applications and cost-effectiveness of using composites to restore civil and military structures.
CICI is collaborating with a Wisconsin-based company on a new way to reinforce concrete, inserting hollow composite bars inside the material. “The advantage to a hollow core system is that not only do we save material and optimize the use of the composite, but the potential for having a conduit inside concrete may open up all sorts of possibilities for building smart structures,” Nanni explained. “Just imagine deicing bridges by circulating a liquid through hollow pipes inside concrete slabs instead of using deicing salt.”
Nanni is also working on way to prefabricate seawalls with composites as a way to protect them from the erosion they often undergo form being exposed to saltwater. “All of our efforts are related to being more intelligent and smarter in the way we use materials and ultimately create more sustainable technology,” he said.
Professor and chair of the Department of Chemistry in the College of Arts and Sciences, Ramamurthy is a photochemist who has experimented with using light as the primary catalyst to induce chemical reactions. “This sounds great in these times in which we are trying to use renewable, clean energy sources such as sunlight to power our world,” wrote professor of chemistry Angel Kaifer in his letter nominating Ramamurthy. “However, quite often, photochemical reactions lead to a complex mixture of products, which limits their practical uses.”
Kaifer went on to explain that Ramamurthy uses a clever idea to overcome that problem, placing reactant molecules in highly confined spaces and shining light on them, which results in fewer products in the ensuing photochemical reaction.
Murthy, as he prefers to be called, is senior editor of Langmuir, a peer-reviewed scientific journal published by the American Chemical Society.
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