NF2 BioSolutions Is Accelerating Research to Cure a Rare Tumor Disease
Neurofibromatosis type II, also known as NF2, is a rare disease caused by a mutation in the NF2 gene, whose protein product, “Merlin”, plays a key role in managing cell proliferation. In Merlin’s absence, cells will grow unchecked, forming benign tumors throughout the body.
While these tumors might not be cancerous, per se, don’t let the word “benign” mislead you. These tumors arise in the brain, spinal cord, and peripheral nerves and progress, eliciting a range of symptoms including loss of balance, seizures, facial paralysis, deafness, and vision loss. Symptoms can also range from mild to severe depending on where these tumors grow. While surgery is possible to remove tumors, the procedure is risky and doesn’t keep tumors from sprouting elsewhere in the body.
Like most rare diseases out there, there is currently no true cure. NF2 BioSolutions, a non-profit based out of West Chester, Pennsylvania, is looking to change that.
We got the chance to meet Dr. Nicole Henwood, who is an attending anesthesiologist at Apollo Medical Group and the President and CEO of NF2 BioSolutions.
Like many rare disease non-profits out there, their mission to find a cure is personal. Nicole’s son, A.J., was diagnosed in early 2018 with NF2. He was 6 years old at the time.
As Nicole navigated the whirlwind of her son’s diagnosis, she sought support through a Facebook group called the NF2 Crew. Once a part of the group, she saw many discussions of parents, friends, and family members talking about what could be done to address the disease, including the promise of gene and cell therapies, which were gaining a lot of attention in the cancer field.
Dr. Nicole Henwood and her son, A.J. (SOURCE: NF2 BioSolutions)
One thing was for sure – Nicole and others didn’t have time to wait around and observe passively hoping that someone would by chance decide to develop a gene therapy for NF2. They needed to take matters into their own hands to raise awareness and accelerate research in this under-studied disease.
Nicole and her team soon applied for non-profit status for NF2 BioSolutions and, to her amazement, received approval in only 17 days.
From there, it was off to the races to share their personal stories with the world and raise funds to support NF2 research. The team also rallied within their communities to recruit volunteers to help in different areas of the organization, many of whom were family members or friends of someone who has NF2.
Right now, the nonprofit has largely relied on donations from families of NF2 patients and from the community, having raised roughly $1.5 million over the past 3.5 years with about ten sponsored research projects ongoing. Two of these projects are poised to enter clinical trials in the near future.
In addition, the organization has established the first open access NF2 biobank, which enables patients to donate tumor specimen samples for characterization in support of further research. Scientists can fill in a request to access these specimens and data.
“There are over 7,000 rare diseases out there that we know of – collectively, that’s not as ‘rare’ as we think,” said Nicole. “It’s hard because we’re still just in the beginnings of gene therapy, and every disease has to go through its own vetting process. I hope and envision that one day we’re at the point where we can easily sequence a gene, develop a therapy, plug it in and fix the disease. The research that we’re supporting today is all in support of that dream.”
Read more about NF2, NF2 BioSolution’s mission, patient stories, and current research projects on their website: nf2biosolutions.org
If you would like to donate to support NF2 BioSolution’s mission please visit ineedacure.org.
If you’d like to get involved and volunteer for NF2 BioSolutions, visit https://nf2biosolutions.org/get-involved/
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Sarah Ellinwood is BioBuzz’s Managing Editor. A scientist by training and a science communicator at heart, Sarah specializes in making complex concepts understandable, engaging, and exciting. She received her Ph.D. in molecular and cellular biology with a focus in infectious disease immunology from the University of Maryland and is passionate about all things related to scicomm, peer mentorship, and women in STEM.