Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders in the United States, affecting one in every 2,500 births. Yet, there is only one FDA-approved drug to treat one of the more than 30 symptoms. And there is no cure.
The Gilbert Family Foundation is on a mission to accelerate a cure for NF1, focusing primarily on research efforts. This commitment began with Dan and Jennifer Gilbert when their son Nick was born with the condition.
In 2015, the couple established the Gilbert Family Foundation to advance groundbreaking NF research, supporting innovative ideas, even and especially when they are overlooked by large pharmaceutical companies.
Tragically, Nick passed away from complications related to NF1 in May 2023. Nick’s optimism and passion is what drives the foundation’s continued quest to find more treatments and a cure.
Understanding NF1
NF1 is a genetic disease that causes tumors to grow on nerve pathways throughout the body, leading to a wide range of complications. Affecting approximately 1 in 2,500 births worldwide, NF1 is considered “the most common rare disease.”
“Millions of people worldwide experience debilitating and occasionally life-threatening symptoms including blindness, deafness, tumors and more,” said Jennifer Gilbert, co-founder of the Gilbert Family Foundation. “Those who face NF inspire us every day to identify more innovative approaches to this challenging disease.”
The complexity of NF1 -- marked by its unpredictable nature and diverse symptoms -- poses significant challenges for diagnosis, management and treatment, with current options remaining limited.
“Gilbert Family Foundation’s investments will accelerate the discovery of treatments that address both the symptoms and underlying causes of neurofibromatosis,” Jennifer said.
Gilbert Family Foundation’s leadership in NF research
The Gilbert Family Foundation has emerged as a leader in NF research, driving progress through targeted funding and innovative partnerships aimed at discovering new therapies and improving the lives of those affected by this challenging condition.
“What Gilbert Family Foundation cares about is really bringing cures to patients, and what that requires is sustained effort and a dedicated direction in research,” said Kalyan Vinnakota, Director of Curing NF.
The foundation is the largest private funder for NF research globally, collectively contributing more than $131 million to NF research through the foundation and its sister nonprofit, NF Forward. It is creating multi-disciplinary “dream teams” of scientific experts focused on novel concepts.
“They bring together subject matter experts that otherwise would not be in the same room,” said Dr. David H. Gutmann, neurologist and neuroscientist, as well as Director of the NF Center at Washington University. “We get a chance to bounce ideas off of each other, challenge each other, and we all share a mutual goal: to combat the problems that children and adults with neurofibromatosis face.”
[Related: Curing NF annual meetings: Accelerating progress through collaboration]
Four pillars of research
The foundation’s research is built on four pillars:
- Vision Restoration Initiative (VRI): This focuses on addressing vision loss associated with NF1 and developing innovative approaches to restore sight.
- Brain Tumor Initiative (BTI): Research targets NF1-associated brain tumors and the development of treatment strategies for these complex tumors.
- Gene Therapy Initiative (GTI): This explores genetic approaches to treat the underlying causes of NF1 and advances innovative gene therapy technologies.
- Next-Generation Models Initiatives (NGMI): In May 2024, a $21 million investment was launched to support 18 research grants aimed at developing advanced models (organoids, assembloids, 3D tissues models) to enable more robust drug discovery, with a special emphasis on models that facilitate easier testing of treatment effectiveness.
The Nick Gilbert Neurofibromatosis Research Institute
The Nick Gilbert Neurofibromatosis Research Institute (NGNRI), established in honor of Nick Gilbert, is the world’s first brick-and-mortar research facility dedicated exclusively to the study and treatment of NF1.
This pioneering institute is a collaborative effort between the Gilbert Family Foundation, Henry Ford Health and Michigan State University Health Sciences, underscoring a shared commitment to advancing NF1 research and patient care.
Located within the new Henry Ford + MSU Health Sciences Research Center in Detroit’s New Center neighborhood, the NGNRI will occupy three floors of the seven-story, 335,000-square-foot facility, slated to open in 2027.
The Gilbert Family Foundation has committed $190 million over 10 years to support the institute’s operations and research endeavors. This investment is part of a broader initiative, with the foundation contributing nearly $375 million to support both the NGNRI and a 72-bed rehabilitation center managed by Shirley Ryan AbilityLab.
A hallmark of the NGNRI is its innovative approach to NF1 research, particularly using organoid technology. Organoids are miniature, lab-grown versions of human organs that replicate the complexity of tissue structures and functions. These models enable researchers to simulate NF1-related conditions more accurately and test potential treatments in a controlled environment, facilitating the development of personalized therapies for patients.
The establishment of the NGNRI marks a significant milestone in the fight against NF1, providing a dedicated space for groundbreaking research and offering hope for improved treatments and, ultimately, a cure.
Dr. Ivan Baines, the COO of NGNRI, was recruited by Nick himself. He described Nick as an “extraordinarily inspirational individual.”
“The whole Gilbert family is that way,” Baines said. “Their commitment to give back and to try and make a better tomorrow for everyone with NF, I mean, there is no better way to have an impact. I feel deeply privileged and honored to be able to make a contribution to that vision.”
Growing awareness
Amid NF Awareness Month and NF Awareness Day on May 17, the Shine a Light on NF at Home campaign offers a simple way for people to contribute to the cause. This initiative empowers individuals and families to raise global awareness of NF from their neighborhoods. As part of the larger Shine a Light on NF campaign, this grassroots extension encourages supporters to light their homes in blue and green, the official colors of the NF cause, making NF more visible in local communities.
Creative activities -- such as decorating driveways or sidewalks with NF-themed chalk art, posting lawn signs or displaying END NF flags -- enable people to share NF facts and show solidarity, even from a distance.
Launched in 2014 by the Children’s Tumor Foundation, Shine a Light on NF has grown into a global movement. In 2023, nearly 500 iconic buildings, bridges and landmarks worldwide were illuminated in blue and green to amplify support for those living with NF. Some of those included Comerica Park, Ford Field, Little Caesars Arena, Kennedy Square and One Campus Martius, to name just a few, along with Bedrock buildings that shine a light every year during NF Awareness Month.
With additional visibility from donated billboard space by Lamar Advertising Company, the campaign’s reach extended further into communities across the United States.
By participating at home, individuals can join this global effort to help foster understanding and build momentum toward a better understanding and awareness of NF.
Legacy and future
Nick’s optimism and passion inspire the foundation’s continued quest for research and top-tier medical care for Detroit residents. It fuels the Gilbert Family Foundation’s mission to find a cure. The strides already being made are driving hope for future breakthroughs.
To learn more about the Gilbert Family Foundation’s mission for an NF1 cure, click or tap here.
To support NF1 awareness and research, visit the NF Forward website. Your contributions, no matter how big or small, have the potential to impact research initiatives for millions affected by NF1 worldwide.