Situation

Neurofibromatosis type 1 (NF1), a genetic disease that causes tumors in the nervous system, occurs in approximately 1 in 3,000 individuals, regardless of gender, race, and ethnicity. NF1 is usually diagnosed in childhood and causes a lifetime of complications, including hearing loss, learning impairments, cardiovascular problems, loss of vision, and severe pain. Of the more than 6,800 rare diseases, NF1 is one of the most common. It is more prevalent than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s disease combined.

Despite its impact, there is only one FDA-approved therapy that targets a small subset of existing tumors. There are no effective means to reverse incurred damage or to prevent new tumors and symptoms, and there is no cure. NF1’s burdens on an individual and their family are immense, but it is typically not life-threatening, and therefore, funding to advance NF1 research has not been prioritized. However, the larger medical research community is increasingly realizing the potential value of NF1 studies in improving not only the lives of those living with NF1 but also those living with other diseases such as cancer.

Approach

In partnership with the Gilbert Family Foundation, the Center for Strategic Philanthropy set out to identify roadblocks stifling progress in the field and looked for opportunities to use philanthropic capital to advance progress. Our team identified two high priority research topics—regenerative medicine to restore vision loss and gene therapy technologies—which, with dedicated, collaborative funding, could lead to transformational therapies.

Based on these priorities, CSP convened more than 60 researchers from various disciplines such as gene therapy, retinal disease, and nanotechnology, to inform two independent NF focused initiatives: The Gilbert Family Foundation’s Vision Restoration Initiative (VRI) and Gene Therapy Initiative (GTI). Both initiatives represent a strategic shift in philanthropic investment in two critical areas: they motivate research and clinical communities to tackle NF in bold new ways, and they signal a long-term commitment to collaboration and innovation.

Outcomes

Following the launch of these two scientific consortia, CSP worked with the Gilbert Family to build the Foundation's internal capabilities to manage this philanthropic effort independently. CSP helped develop and set strong processes in place so that an in-house team could continue the work seamlessly. Key to this effort was helping the Gilbert Family Foundation hire scientific staff who could manage programming and continue to facilitate the collaboration between research groups that could someday lead to a better understanding of NF1.

Both programs moved to full Gilbert Family Foundation management in 2020, and they continue to drive substantial progress toward new treatments for NF1.