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Bruce R. Korf, MD, PhD

Bruce R. Korf, MD, PhD

Conducting Mechanism-Based Clinical Trials for Genetic Disorders: Neurofibromatosis Type 1 [PLEASE NOTE TIME CHANGE]


March 21, 2014, 8:00 a.m. to 9:00 a.m.


Bruce R. Korf, MD, PhD

Wayne H. and Sara Crews Finley Chair, Medical Genetics; Professor and Chair, Department of Genetics; Director, Heflin Center for Genomic Studies; The University of Alabama at Birmingham, Birmingham, AL


Fralin Biomedical Research Institute, M106
2 Riverside Circle, Roanoke, VA 24016

The identification of the genes responsible for inherited disorders opens the door to the understanding of disease mechanisms, and this in turn paves the way toward mechanism-based therapeutics. Neurofibromatosis type 1 (NF1) is a dominantly inherited disorder that affects multiple systems of the body, including the formation of benign, and sometimes malignant, tumors of the peripheral and central nervous system. The NF1 gene is a GTPase activating protein that regulates signaling mediated through Ras; loss of function of the NF1 gene product "neurofibromin" leads to elevated Ras signaling, with consequent abnormal cell growth. Numerous inhibitors have been developed for various components of the Ras signaling pathway, and several of these have been used in clinical trials for different components of the NF1 phenotype. In 2006, the Department of Defense (which has a program that supports NF research) organized the Neurofibromatosis Clinical Trials Consortium, which is now conducting clinical trials for several aspects of the phenotype of NF1, and the related disorder, NF2. Several additional trials are in the pipeline. In addition, other approaches are under investigation that can be used to restore function of the mutated gene or altered protein.

Additional Details

This is a free event. The host is Michael Friedlander, PhD. For more information, please call 540-526-2059, or send an e-mail.

Map and Parking

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