Structural and Functional Restoration of the Visual System in NF1

The purpose of this project is to understand the specific barriers to visual system function and optic pathway regeneration in people suffering from neurofibromatosis 1 (NF1), and to develop strategies to overcome those barriers. Previous work from has shown (in animal models) that the mammalian visual system has the capacity to regenerate after injury, provided that the proper stimulus (or combination of stimuli) is provided. The cellular, molecular, structural and functional conditions leading to vision loss in the optic pathway of NF1 patients are unique. Thus, it is crucial to gain thorough understanding of these features in animal models of NF1 in order to develop viable strategies for curing vision loss in NF1 patients.

This project aims to define the optic eye-to-brain pathway in NF1 mutant mice and the specific structural and molecular barriers that must be overcome in order for optic axon regeneration to occur at different stages of the disease. We will test the efficacy of enhancing retinal neural activity on regeneration in NF1 mutants, and the impact of increasing specific cell growth pathways alone or in combination with activity augmentation. Using state-of-the-art tools, we propose to assess retinal axon regeneration, tumor growth and stability and recovery of visual function. Successful completion of these studies should greatly inform our understanding of visual defects in NF1 and strategies to reverse and overcome them.

Investigators

Andrew Huberman, PhD

Stanford University

School of Medicine

Andrew Huberman, PhD

Stanford University

School of Medicine

Current Stage

Discovery

Discovery
In Vivo Proof of Concept
IND Enabling
Clinical Trial Phase 1
Clinical Trial Phase 2
Clinical Trial Phase 3