Neurofibromatosis is a very common genetic disorder affecting 1 out of 3,000 children and adults. NF1 patients can develop brain and nerve tumors that can compromise brain and nerve structure and function. We aim to pursue cancer research, and primarily study nerve tumors, with the goal of improving the quality of life of >110,000 people in the U.S., and many more worldwide.
My research interests include glial cell biology, intracellular signaling, preclinical therapeutics, and peripheral nerve tumorigenesis. My laboratory team and I share the goal of finding innovative treatments for neurofibromatosis by utilizing our knowledge of developmental biology together and levels of ribonucleic acid (RNA) and proteins in neurofibroma tumor and immune cell types as guides for drug selection and testing.
Some of the notable discoveries my team and I have made in our lab include: 1) developing and producing transcriptome data for investigating NF1 cells and nerve tumors and 2) pioneering the use of mitogen-activated protein kinase (MEK) inhibitors in a new and original preclinical model of the peripheral nerve tumor. This research led clinicians to pursue clinical trials, and in 2020, the Food and Drug Administration (FDA) granted approval for use of MEK inhibitors as a therapy for plexiform neurofibromas.
I also recruit and mentor neuro-oncology and rasopathy faculty at the Cincinnati Children’s Hospital Medical Center, and mentor students and postdoctoral fellows in my laboratory.
Throughout my career, I received awards, including:
I joined the Cincinnati Children’s Hospital Medical Center team in 2006. I now have more than 30 years of experience in Schwann cell biology and cancer research. My research has been consistently funded by the National Institutes of Health, the Department of Defense Program on Neurofibromatosis and other agencies. My work has been published in numerous journals, including Cancer Cell, Cell Reports, Scientific Reports, Cancer Research, PNAS and Clinical Cancer Research.
PhD: Indiana University, 1982.
BA: Brown University, 1975.
Fellowship: Washington University St. Louis, 1982-1987.
Preclinical testing in neurofibromatosis
Genetic mutations in tumor suppressor genes; development and tumorigenesis of the nervous system; peripheral NF1, NF2
Experimental Hematology and Cancer Biology, Cancer and Blood Diseases
Motor Function and Physiology in Youth With Neurofibromatosis Type 1. Pediatric Neurology. 2023; 143:34-43.
Combining SOS1 and MEK Inhibitors in a Murine Model of Plexiform Neurofibroma Results in Tumor Shrinkage. The Journal of pharmacology and experimental therapeutics. 2023; 385:106-116.
Abstract IA17: Use of RAS isoforms in nerve tumors. Molecular cancer research : MCR. 2023; 21:ia17.
Runx1/3-driven adaptive endoplasmic reticulum stress pathways contribute to neurofibromagenesis. Oncogene: Including Oncogene Reviews. 2023; 42:1038-1047.
Merlin tumor suppressor function is regulated by PIP2-mediated dimerization. PloS one. 2023; 18:e0281876.
Multiple Nf1 Schwann cell populations reprogram the plexiform neurofibroma tumor microenvironment. JCI insight. 2022; 7:e154513.
The Need for New Treatments Targeting MPNST: The Potential of Strategies Combining MEK Inhibitors with Antiangiogenic Agents. Clinical Cancer Research. 2022; 28:3185-3195.
Cdkn2a Loss in a Model of Neurofibroma Demonstrates Stepwise Tumor Progression to Atypical Neurofibroma and MPNST. Cancer Research. 2021; 80:4720-4730.