Funding State of the Art Medicine to Find a Cure for a Rare Disease

Neurofibromatosis type 1 (NF1) is a rare disease that most people have never heard of. It’s usually diagnosed in childhood and is actually more common than cystic fibrosis—a condition everyone’s heard of. NF1 is a genetic disorder that affects one in every 3,000 people worldwide. Unfortunately, NF1 has no cure and no approved drug therapies.

But that may change thanks to NF1 advocates who last fall pushed for federal approval of $15 million in new research funds. In the same ballpark as the federal investment, the Detroit-based Gilbert Family Foundation last month announced a three-year, $12 million initiative “aimed at accelerating the development of curative therapies that address the underlying genetic abnormalities in NF1 patients.”

Launched with a $150 million commitment from Dan and Jennifer Gilbert, the Gilbert Family Foundation is focused on funding cutting-edge medical research and initiatives aimed at transforming Detroit. Dan Gilbert is the billionaire founder of Quicken Loans.

The Gilberts have a personal interest in unlocking the puzzles of NF1, which is the case with so much giving for biomedical research by major donors. "We have been deeply impacted ever since our oldest son Nick was diagnosed with NF1 as a toddler,” said Jennifer Gilbert, “and believe this research will benefit numerous families affected by NF1 around the globe, as well as our son.”

Taking on NF1

NF1 is a complex disease with numerous symptoms. Typically inherited, but sometimes the result of a spontaneous mutation, it causes tumors to develop in the brain, spinal cord, or nerves throughout the body. While NF1 tumors are generally not cancerous, they may cause significant deformities and health issues such as blindness. Sometimes benign tumors may become malignant. About 50 percent of people with NF1 also have learning challenges.

In the past, NF1 drug development has focused on the symptoms. The Gilbert Family Foundation money is looking for a cure, funding researchers addressing the underlying genetic causes of NF1. The foundation says that “directly repairing, replacing, or bypassing the NF1 gene mutation is an important piece of any NF cure.” Awards went to eight research teams working to identify promising gene therapy techniques that include such procedures such as gene replacement, gene editing, RNA editing, exon skipping, and nonsense mutation suppression.

A Reason for Hope

Despite the current lack of a cure, research is finally starting to catch up, thanks to rapid advances in biomedical and information technologies. For example, another funder in the NF1 space is the Children’s Tumor Foundation (CTF). The research funded by the foundation and its partners seeks to identify drug candidates that could lead to treatments for NF1, including treatments that may enable the shrinking or halting of the growth of the tumors.

CTF has also developed a research model aimed at translating discoveries into treatments, and then bringing those treatments to trials more quickly and at a lower cost. This model, called Synodos, is driven by a collaborative open science platform consisting of multidisciplinary experts from across the globe that use real-time data sharing.

Through this technology a team of researchers has demonstrated the ability to replicate NF1 manifestations in pigs. This is an important advance, allowing researchers and clinicians, for the first time, to test and study potential NF treatments in large animal models that mimic NF1’s expression in humans. Traditional NF1 research models utilize mice, which can replicate certain aspects of NF1, but not in a comprehensive manner, and are not as easily replicable for humans.

A newcomer to the small NF1 field is the Neurofibromatosis Therapeutic Acceleration Program (NTAP), a privately funded nonprofit organization dedicated solely to developing effective treatments for patients with NF1-associated plexiform neurofibromas. NTAP collaborates with philanthropists, venture capitalists and nonprofit organizations. Its programs span exploratory research through clinical trials and marketing approval, to ensure patients benefit from innovative research as quickly as possible.

And its efforts are bearing fruit. NTAP is sponsoring a multi-institutional group of scientists from Johns Hopkins University, the University of Florida, and Sage Bionetworks to create a new discovery tool. Researchers have made publicly available a genetically diverse set of cells with a range of NF1 mutations which can be tested to see how they respond to thousands of cancer drugs that are thought to possibly be effective for the disease.