Viewpoint: Collaborating Towards a Cure for NF1

YOORI KIM, SCIENTIFIC OFFICER, GILBERT FAMILY FOUNDATION

The Gilbert Family Foundation (GFF) is on an ambitious journey to develop effective treatments and ultimately a ‘cure’ for neurofibromatosis type 1 (NF1).

NF1 is a complex rare disease that can lead to more than 20 different types of symptoms; from skin pigmentation to bone malformations to vascular complications to learning disabilities and tumors on nerves almost anywhere in the body. Depending on the location and severity of tumors (both unpredictable factors), individuals with NF1 can experience lifechanging physical deformations, functional deficits, and even death from malignant cancers. Most individuals with NF1 develop some combination of these symptoms by adolescence and their quality of life is impacted for their rest of their lives.

Solving the enigma that is NF1 requires expertise and innovation in many disciplines. Bringing the best experts and technologies together is the key to the work that we do at GFF.

Take our Vision Restoration Initiative (VRI). Approximately 20 percent of children with NF1 develop tumors in their visual system, called optic pathway glioma (OPG). In many of these children, OPGs cause damage to the optic nerves and subsequent blindness. VRI’s goal is to develop treatments that can restore vision loss and prevent further loss. This ambitious goal requires a deep understanding of OPG pathology, visual system anatomy and function, nerve protection and regeneration approaches, not to mention the specialized tools used across these varied disciplines. We saw that as NF1 researchers were gaining more insights into the pathology of OPGs, there were exciting advances being made in other eye diseases and regenerative medicine as well. We thus took on a timely opportunity to bring together leading experts across these disciplines and formulated the VRI ‘Dream Team’ consortium. Twelve world-class researchers across nine research institutions have committed to exchanging research tools, data, ideas, and feedback on each other’s work. GFF convenes the Dream Team regularly to share updates and problem solve challenges together. This ongoing dedicated teamwork will be essential to the success of VRI.

While VRI tackles a major symptom of NF1, GFF’s Gene Therapy Initiative (GTI) is another collaborative venture that takes aim at the cause. This involves developing treatments that target the specific genetic abnormalities of NF1, with the ultimate goal of finding a ‘cure’ that could address all possible features of the disorder. In our initial stage of investigation, we are

interested in identifying which available gene therapy approaches are the most promising for NF1. To answer this question, we have brought together researchers who have expertise in various gene therapy techniques and have experience applying them in other genetic diseases and have teamed them up with traditional NF1 researchers who importantly contribute the fundamental disease expertise.

VRI and GTI are living examples of how GFF drives specific technological innovations by enabling and fostering collaboration. We organize regular collaborative meetings, facilitate exchange of information and materials across research labs, and provide a data sharing platform for all our research partners. In addition, as most of our funded researchers have never worked on NF1 before, we are growing the research community that is focused on our rare disease.

GFF has undertaken ambitious goals to help restore quality of life for NF1 patients everywhere. Given the complexity of the disorder, we recognized from the getgo that no single individual or organization would be able to accomplish this in our lifetimes, if at all. Thus, we embarked on our journey by bringing together multidisciplinary research teams focused on common goals and creating a culture of collaboration.

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