The foundation will spend $12 million in an initiative to develop new treatments that target the underlying genetic abnormalities in neurofibromatosis type 1 (NF1), a disorder that can result in bone and cartilage disorders called skeletal dysplasias, as well as the formation of nervous system tumors, potentially leading to disfigurement, cancer, and blindness. There are currently no FDA-approved treatments to prevent or stop the tumors associated with the disease.
“We want to develop drugs and other innovations capturing the most advanced technologies for genetic diseases,” says YooRi Kim, the foundation’s scientific officer. Proposed treatments the foundation will investigate include gene replacement, gene editing, RNA editing, exon skipping, and nonsense mutation suppression.
“Nobody has explored gene therapy for NF1, so we’ll look at different approaches to see what will work during the first three years,” she adds.
In addition to advancing gene therapy innovation, the Gilberts have a very personal reason for launching the initiative. Their son, Nick, was diagnosed with NF as a toddler.
Kim says the Gilbert Family Foundation put out a global call for researchers in the field who were willing to work collaboratively and remotely, eventually assembling a team of eight. The foundation’s NF1 researchers will mostly work out of the University of Alabama, Duke University, the University of Massachusetts, and Paris Descartes University, although more sites may be added later.
“Collaboration is a key element of what we’re trying to foster,” Kim explains. She expects the research to be a long process; after three years of initial feasibility work, the next phase of the initiative will involve identifying a “high risk, high reward” therapy that works on NF1. “[Gene therapy] is new technology that has shown promise in other diseases, so now we want to see if it works for NF,” she says.
If the research goes well and a promising drug therapy is developed, Kim says the foundation is “open to downstream partnerships to make the drug available to the patient community—we’re not in the business of making drugs ourselves.” Beginning early next year, the foundation will begin talking to genetic technology and pharmaceutical companies “to discuss the lay out of the handover if that’s what we want to do,” she says.
Kim says that NF is typically treated with repurposed cancer drugs that address tumor predisposition. “Now it’s 2018 and there are so many great, new therapies—the Gilberts are very interested in bringing alternative approaches and thinking to NF. We hope we can add to the ongoing research landscape.”
The Gilbert Family Foundation was established in 2015 after a $150 million investment. The foundation divides its work between NF research and efforts to revitalize the city of Detroit, Kim says.