For Release: October 2018

Development of therapies for human disease remains dependent on well-characterized and validated model systems for pre-clinical therapeutic testing. Most in vitro drug testing is performed on cells growing in two dimensions (2-D) on plastic dishes. In comparison to 2-D cultures, cells growing in a 3-dimensional (3-D) matrix may more accurately model the physiological environment and allow for assessment of cell-cell interaction in response to drug. Cells in 3-D models also exhibit growth patterns more akin to those in the living system. These factors suggest that 3-D cell model systems may more accurately model drug sensitivity and resistance, and therefore more accurately predict human response to drug. Accordingly, such systems are highly coveted as tools for researchers, but they can be difficult to generate.

Neurofibromas are tumors of the nerve that are found most commonly in people with neurofibromatosis type I (NF1). NF1 is a neurogenetic disease with an estimated prevalence of one is every 2,500 to 3,000 people. A type of neurofibroma called a plexiform neurofibroma affects up to 50 percent of people with NF1. These tumors can cause weakness, sensory changes, deformity, pain and have a risk of converting to deadly sarcomas called malignant peripheral nerve sheath tumors (MPNST).  The development and optimization of a robust 3-D model of NF1 plexiform neurofibroma has long been desired because it is thought to be a more accurate representation of slow-growing “finicky” Schwann cells (the neoplastic cell of neurofibromas) than 2-D culture systems, but be far less time and resource intensive than genetically-engineered mouse models. A team of researchers from Wayne State University led by Raymond Mattingly, Ph.D., professor and chair of Pharmacology for the WSU School of Medicine, has established and optimized what is believed to be the first 3-D model of plexiform neurofibroma cells. This work is described in the manuscript “Development of 3D Culture Models of Plexiform Neurofibroma and Initial Application for Phenotypic Characterization and Drug Screening,” published in Experimental Neurology, 2018; J299(Pt B):289-298, PMID: 29055717.

These new models provide an innovative way to conduct drug screening and also investigate clinically important aspects of plexiform neurofibroma cell-cell interaction at baseline and in response to drug exposure.

All of the data generated from this project have now been made openly available and can be accessed through the Synapse portal managed by Sage Bionetworks. By having this genetic and molecular data made openly available to the global research community, the investigators and sponsors hope to foster collaborations that will collectively advance efforts in developing effective therapies to prevent or treat neurofibromas.

This work was supported by the Neurofibromatosis Therapeutic Acceleration Program (www.n-tap.org), based in The Johns Hopkins School of Medicine. The Johns Hopkins University and Wayne State University, are academic institutions based respectively in Baltimore, Md., and Detroit, Mich.

Sage Bionetworks is a nonprofit biomedical research organization, founded in 2009, with a vision to promote innovations in personalized medicine by enabling a community-based approach to scientific inquiries and discoveries. Sage Bionetworks strives to activate patients and to incentivize scientists, funders and researchers to work in fundamentally new ways in order to shape research, accelerate access to knowledge and transform human health. It is located in Seattle and is supported through a portfolio of philanthropic donations, competitive research grants, and commercial partnerships. More information is available at www.sagebionetworks.org.