University of Virginia neurologist Dr. Erin Pennock Foff, biologist Sarah Kucenas and biomedical engineer Shayn Peirce-Cotter have been named recipients of 2013 Hartwell Individual Biomedical Research Awards to benefit children of the United States. Each scientist will receive $100,000 in direct annual research support from The Hartwell Foundation for three years.
The award is intended to inspire innovation and achievement among exceptional scientists and engineers who are pursuing cutting-edge biomedical research. In addition to the individual awards, the foundation awarded the University three Hartwell Fellowships at $50,000 per year for two years to enable specialized postdoctoral training in research areas that exemplify the foundation's values.
"U.Va. is extremely pleased that three of our most innovative researchers will become new Hartwell Foundation investigators this year," Thomas C. Skalak, U.Va. vice president for research, said. "Their work at the frontiers of bioscience, bioengineering and medicine holds the potential for transforming the way we provide care for children in need. The Hartwell support is unique, because it funds daring innovators and projects that would not find support at more traditional funding agencies at this stage."
Each year, The Hartwell Foundation announces its Top 10 Centers of Biomedical Research in the United States; inviting each center to nominate individuals for a Hartwell Individual Biomedical Research Award. Selected institutions may submit up to four nominations to compete in a process that seeks to fund early-stage, innovative and cutting-edge biomedical research that has not yet qualified for significant funding from outside sources, has the potential to benefit children and demonstrates a clear path to clinical application.
Only investigators nominated by a participating institution selected by The Hartwell Foundation are eligible to compete for individual awards. For each funded nominee, participating institutions receive a Hartwell Fellowship to fund one postdoctoral candidate who exemplifies the values of the foundation. Virginia has been designated as one of the Hartwell's Top 10 Centers of Biomedical Research in each of the last seven years.
With three individual awards this year, plus the three postdoctoral fellowships, U.Va. has been honored by The Hartwell Foundation with $1.2 million in funding. The three individual awards place U.Va. in the leadership position for all participating schools nationally since Hartwell began the competition in 2006. Over the course of seven years of participation, the University has earned 10 Individual Biomedical Research Awards and nine fellowships, for a total of $3.9 million in Hartwell funding.
A closer look at this year's recipients:
Dr. Erin Pennock Foff
Twenty of the most common and debilitating diseases inherited by children, including myotonic dystrophy and Fragile X syndrome, are linked by a shared genetic defect within the DNA. There are no treatments available for these diseases, but Dr. Erin Pennock Foff aims to change that.
Foff, of the School of Medicine's Department of Neurology, plans to target the shared defect, which consists of the excessive repetition of three or more consecutive nucleotides. In many cases, the greater the number of repeated sequences, the more severe disease the child suffers.
Based on a discovery she made recently, Foff believes the repeated nucleotides pair up with specific microRNA, which are short sequences of ribonucleic acid that regulate protein production. The repeated nucleotide sequences effectively are "sponging" up specific microRNAs, so that the microRNA can't do its job, she hypothesizes. This, she believes, contributes to diseases collectively known as nucleotide repeat disorders.
She first intends to model this sponging in cell culture, then determine if drugs can increase the amount of microRNA and block the disease effects. If successful, children with these diseases would have, for the first time, an effective treatment for their conditions.
Foff previously was a Hartwell postdoctoral fellow, and is the first fellow to rise to the level of investigator.
Sarah Kucenas, assistant professor of biology, is being awarded for her research to harness the regenerative capacity of the developing nervous system to help it repair itself during disease.
The work could change the face of neuroscience, opening up avenues of treatment that could prevent the progressive decline seen in many childhood neurodegenerative diseases, including muscular dystrophy, pediatric multiple sclerosis and Charcot-Marie-Tooth disease, an inherited disorder that leads to loss of limb control for one in 2,500 newborns in the United States. Children with this disease often become wheelchair-bound by age 3.
While limited therapies exist to treat these currently incurable diseases, Kucenas proposes to promote repair of the underlying cause of these disorders: damage to the myelin sheath, an insulating material around nerve fibers that - when functioning normally - allows nervous system signals to travel quickly along peripheral nerves.
Previous research by Kucenas has demonstrated that the nervous system is capable of self-repair. Her new research, using Hartwell funding, will create a better understanding of this process and possibly lead to the development of target drugs that help the nervous system self-repair and correct damage to myelin sheaths.
Shayn Peirce-Cottler, associate professor in the departments of biomedical engineering and ophthalmology, is being recognized for her work in "Modulating Immune Cell Dysregulation in Autoimmune-Associated Uveitis."
Uveitis, inflammation of the middle coat of the eyeball, is a serious condition that may develop rapidly and cause lasting damage to the eye. Autoimmune-associated uveitis causes chronic inflammation, which accounts for 10 percent to 15 percent of all cases of total blindness in the United States. The disease commonly is associated with other autoimmune diseases in children, such as juvenile idiopathic arthritis.
"Current treatments for chronic uveitis in children are variably effective, and my research aims to better understand chronic inflammation in the eyes of pediatric patients and to develop a new and more effective treatment approach for children suffering from chronic uveitis," Peirce-Cottler said.
The research is a new direction for her, something she is anxious to start, she said.
"This puts me and my work in the company of other outstanding investigators - previous and current Hartwell Investigators - at U.Va. and across the country at other institutions," she said.
In 10 years at U.Va., she has established successful joint ventures with colleagues and said she enjoys bringing together people with diverse skills to solve hard problems.