Welcome to the first in a series of “NF Bites” – providing snapshots of individual areas of neurofibromatosis research and how the Children’s Tumor Foundation is advancing this. Over the coming days and weeks we will focus on different aspects of NF1 and NF2 research. To kick off, we ask: where are we with schwannomatosis research progress?
Just a couple of years ago there was little activity in the field of schwannomatosis, as this rare form of neurofibromatosis – affecting only 1:40,000 persons – was so poorly understood. With features including multiple nerve tumors and chronic unmanageable pain, schwannomatosis needed attention. Things changed in 2007 with the identification of a candidate gene for schwannomatosis, INI1/SMARCB1. Since then the field has grown significantly and the Children’s Tumor Foundation has been a major driver of this area supporting a number of Schwannomatosis Awards to date.
· Larry Sherman (Oregon Health Sciences University) and Marco Giovannini (House Ear Institute) have each received two CTF Schwannomatosis Awards to develop and analyze the first mouse models of schwannomatosis. Dr. Sherman has developed a mouse that develops pain, a hallmark of neurofibromatosis; and Dr. Giovannini is developing mice with tumors characteristic of schwannomatosis. Intriguingly this research might separate the issues of tumor growth and pain in schwannomatosis and open the gateway to developing drug therapies. Dr. Sherman also recently received a Drug Discovery Initiative Award to use the mouse to test pain therapeutics in collaboration with Pfizer and AstraZeneca.
· Gareth Evans (University of Manchester) received a CTF Schwannomatosis Award to further characterize the genetics of schwannomatosis; while Young Investigator Awardee Arkadiusz Piotrowski (University of Alabama at Birmingham) is also endeavoring to understand schwannomatosis genetics. Both studies are underway and looking beyond INI1/SMARCB1 to identify other genes that may be mutated in the disorder, including NF2.
· Allan Belzberg (Johns Hopkins University) was awarded a special $140,000 CTF Contract Award for creation of an international collaborative repository of schwannomatosis patient information to centralize information on schwannomatosis patients through collaboration between multiple clinical centers in the US and overseas. This is currently in development, and will be invaluable to learn more about the natural history (clinical progression) of schwannomatosis and to help identify patients who might participate in future clinical trials.
Look for more NF Bites in the coming days and weeks!
