LB1084 Developing uniform datasets for tissue based studies of cutaneous neurofibromas

Cutaneous neurofibromas (cNF) are complex tumors of the skin in individuals with neurofibromatosis type 1 (NF1), a syndrome affecting approximately 1:3,000 persons worldwide. There are no drug therapies for these tumors, and current treatment is limited to various procedure-based approaches. A critical need in conducting meaningful translational studies of these tumors is to have high quality tissue samples representing the diversity of human cutaneous tumors. Multiple challenges exist, including a lack of standardized sample collection or analysis protocols, non-universal terminology for cNF, different methods for the removal of tumors, and varied patient privacy requirements across countries.

Source: Journal of Investigative Dermatology - August 21, 2019 Category: Dermatology Authors: S. Verma, S. Gosline, S. Peltonen, J. Peltonen, A. Soragni, P. Wallace, L. Le, P. Topilko, D. Gutmann, C. Anastasaki, R. Mattingly, E. Serra, G. Lee, P. Knight, S. LaRosa, A. Bakker, J. Blakeley Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research