By Wendy Sarubbi | April 20, 2015 3:18 pm

Katherin has spent more than half her life fighting Schwannomatosis, a disease that causes tumors to grow on her peripheral nerves, causing excruciating pain and neurological difficulties. At age 33, she is in a wheelchair, has endured more than 25 surgeries and lives in constant pain. She seeks counsel and inspiration from UCF College of Medicine researcher Dr. Cristina Fernandez-Valle, who has spent her career trying to understand why Schwann cells form tumors and to look for drug treatment for Schwannomatosis, and Neurofibromatosis Type 2 (NF2), a related genetic disorder that causes tumors.

“I can’t just sit by when I know there is so much suffering in the world due to Schwann cell tumors,” Dr. Fernandez-Valle says.

That commitment recently resulted in two grants from the Department of Defense and a research contract from Dr. Fernandez-Valle’s selection to join a research consortium that includes healthcare leaders from Harvard and Johns Hopkins.

As a professor in the Burnett School of Biomedical Sciences, Dr. Fernandez-Valle is among a handful of basic scientists worldwide specializing in Neurofibromatosis (NF), a disease that causes tumors to grow on the nervous systems of its victims. The disease attacks the body’s Schwann cells, which form a protective insulation around nerve fibers, called myelin, that enable electrical signals to travel throughout the nervous system. Although the tumors are usually benign, they cause serious medical problems, including loss of nerve function when they are removed. In the case of bilateral vestibular schwannomas which are diagnostic for NF2, tumor removal leaves individuals deaf and with facial disfiguration at a young age. Patients are not usually diagnosed until they begin losing their hearing.

Dr. Fernandez-Valle is focusing her research on discovering drugs that can stop or slow the tumor growth. She said the latest cancer therapies – that attack specific cancer cells at the molecular level, rather than attack all cells through traditional chemotherapy – may provide possible treatments for NF. Her recently awarded $770,000 grant from the Defense Department’s Congressionally Directed Medical Research Programs (CDMRP) will help Dr. Fernandez-Valle explore potential NF drug targets she identified with the Sanford-Burnham Medical Research Institute. Using Sanford-Burnham’s robotic screening center (Conrad Prebys Chemical Genomics Center), Dr. Fernandez-Valle tested 1,280 compounds to see if any held scientific promise for fighting Schwann cell tumors. The CDMRP grant will help her conduct additional testing to see if any FDA approved drugs that hit those targets work in cell models of NF2.

She is a co-investigator on the second CDMRP award with Oregon Health Sciences University to understand why pain develops in patients with Schwannomatosis. Her $130,000 contract from the Children’s Tumor Foundation is for research with a consortium conducting drug screens for Neurofibromatosis Type 2. The consortium, called SYNODOS, is a multidisciplinary group of physicians and scientists that are sharing data and research strategies to speed up the discovery of drugs to treat NF. CTF describes its efforts as bringing together “researchers from 12 world-class labs at academic and medical centers of excellence who are for the first time in NF research history sharing datasets in order to develop effective treatments for NF.”

Members of the group recently met at the UCF’s College of Medicine campus in Lake Nona and in June they will meet in California. Researchers conference call monthly to discuss findings and improve approaches to find the best options – both in terms of drugs and cell lines – for treatment. “It is such a great opportunity,” Dr. Fernandez-Valle said of the partnership. “We have such a diverse group, each with a unique skill set. And we’re working together to try and tackle this medical problem in a dramatically different way.”

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