Neurofibromatosis type 1 (NF1) is a rare genetic condition that affects approximately 100,000 Americans. Children diagnosed with the disorder often have motor delays and learning disabilities. Many are also diagnosed with autism or brain tumors. While significant progress has been made in understanding the biology of NF1 in animal models, translating these findings into clinical outcomes that improve children’s quality of life remains a challenge. Overcoming it will require the insights of fundamental biologists, neuroscientists, clinicians, educators, and patients’ families, all working toward a common goal.
Enter the Penny’s Flight Foundation. The organization recently partnered with Cold Spring Harbor Laboratory (CSHL) Professor Linda Van Aelst, a neuroscientist studying NF1 and related incidences of glioblastoma. Van Aelst and Penny’s Flight recognized a need to get more top minds deliberating over NF1, so they looped in CSHL’s Banbury Center think tank. Banbury had hosted five meetings on NF1, but it had been 20 years since the last one. The time had come to revisit the condition in light of significant scientific and technological advances.
At the 2024 Banbury meeting, Van Aelst and colleagues formed a multidisciplinary group called the CABIN task force. CABIN—short for cognition and behavior in NF1—has a clear, united goal: to develop a framework for future NF1 research that may yield new scientific insight along with systemic changes in patient care. To better understand what that looks like, let’s home in on one symptom common among NF1 patients. It’s known that the disorder often affects working memory. So, testing working memory in research models of NF1 is essential to figuring out how these symptoms manifest. But then, so too is considering the environments in which children with NF1 actually live and learn.
As Laurie Cutting, a professor of neuroscience at Vanderbilt University who attended the meeting, puts it, “One of the greatest challenges is determining at what point do you have enough science to communicate recommendations to families, teachers, and society in a way that indicates that we should change the way that we are doing things?” To answer that question, CABIN proposed what task force members call the NF1 neurodevelopmental inventory (NF1-NDI), a catalog of cognitive profiles unique among persons with this disorder. The tool would enable clinicians and educators to identify signs of NF1 sooner. That, in turn, could lead to faster diagnoses and more personalized care. The proposal has now been published in an article for the CSHL Press journal Genes & Development.
As is the case in so many other rare diseases, research on NF1 begins with basic biology. How are cells developing? How are brain circuits adapting? And while NF1 is rare, exploring its effects on cognition and behavior may have broad implications. Understanding this disorder from the inside out not only points the way to better diagnostic and therapeutic strategies for children with NF1; it may yield insights that apply to countless other genetic diseases and neurodevelopmental disorders.
Written by: Caroline Cosgrove, Community Engagement Manager | cosgrov@cshl.edu | 516-367-8844
Funding
Penny’s Flight Foundation
Citation
Gutmann, D.H., et al., “Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force”, Genes & Development, March 25, 2025. DOI: 10.1101/gad.352629.125