image: UCF scientist Cristina Fernandez-Valle works to find solutions to NF Type 2 by studying Schwann cells. view more
Credit: Jacque Brund
University of Central Florida Associate Professor Cristina Fernandez-Valle just landed two federal grants worth $2 million to research a disease that can leave children and young adults deaf, partially paralyzed or brain damaged.
Fernandez-Valle's efforts to fight Neurofibromatosis type 2 (NF2), which affects one in 50,000 people, go beyond the laboratory. She regularly volunteers with a nonprofit organization dedicated to improving the health of children with the disease, and she also helped to establish two nationally affiliated clinics in Florida that bring together physicians with the best expertise.
"It's a devastating disease," Fernandez-Valle said. "It makes a big difference to my research and daily motivation to meet individuals who live every day with NF2. When the research results are discouraging, you think of your NF2 friends and how much they need you to succeed and you keep going."
One of the National Institutes of Health grants, worth $1.5 million, will further the professor's investigation of 15 proteins she believes may be useful in treating the tumors associated with NF2, which can shorten a person's lifespan by 40 years.
Typically, Schwann cells in peripheral nerves form tumors because of a mutation in the NF2 gene. Although the tumors are benign, their locations, usually in the hearing and balance nerve in the brain, lead to deafness and facial paralysis. Surgical removal of the tumors, the only treatment today, can cause more damage.
Recently, there's been reason for hope. Dr. Scott Plotkin and his colleagues at Massachusetts General Hospital completed a study that seems to indicate that the drug Avastin -- already on the market to fight late-stage colon and breast cancer -- may also shrink NF2 tumors. This implies other cancer-fighting drugs may also have a similar effect, so companies likely won't have to spend millions of dollars on developing a new drug they aren't sure will work, Fernandez-Valle said. They have something that shows promise from the start. And that's where Fernandez-Valle's research is aimed. The proteins she's identified could be key in delivering the drugs to the tumors.
"If that bears out, an effective treatment that would radically improve lifestyles and potentially extend patients' lives could become a reality," she said.
The second NIH grant will help Fernandez-Valle discover the normal function of merlin, the NF2 protein in Schwann cells. When the NF2 gene is mutated, some Schwann cells form tumors. Her research will focus on how the normal protein functions in hopes of finding a way to correct it when it goes haywire.
In her laboratory, Fernandez-Valle strives to offer families she's met through her volunteer work with the national Children's Tumor Foundation hope for the future.
The nonprofit foundation is dedicated to improving the health and well-being of individuals and families affected by all forms of neurofibromatosis (NF). It raises research funds, provides information to families and helps develop clinical centers.
Two years ago, Fernandez-Valle played a role in organizing two clinics affiliated with the national foundation, one in Orlando and another in Miami. A clinic also recently was established in Tampa. As of August, there were 40 clinics nationwide.
"It's like one-stop shopping," she said of The Children's Center for Cancer and Blood Diseases at Florida Hospital. "Instead of making families run from one doctor to another and another, all of the physicians with the necessary expertise get together in one room twice a month and work with the patient and his or her family."
The clinics also are unique because they have pediatricians as well as physicians that treat adults, making the transition from pediatric to adult care seamless, said Fernandez-Valle, who last year was named vice president of the Florida chapter of the Children's Tumor Foundation.
She coordinates three regional medical symposia each year in Florida to give families information about the latest research and to provide children opportunities to have fun. The next "Family Fun Day" is scheduled for Oct. 24 at the Orlando Science Center. Contact Jennifer Ketchersid at 407-303-KIDS to reserve a seat.
Fernandez-Valle joined UCF's Burnett School of Biomedical Sciences in the College of Medicine in 1996 after a distinguished career that included positions at the Veterans Administration Medical Center in Miami, the University of Miami School of Medicine and the Health Research Institute at the Orlando Regional Medical Center, now known as Orlando Health. The Cuban native and mother of an 18-year-old son received her Ph.D. from the University of Miami School of Medicine. She also is a fan of sailing, and she lived on a sailboat for 10 years while in Miami.
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