The NF Data Portal: A Community-Driven Resource to Accelerate Neurofibromatosis and Schwannomatosis Research and Drug Development
Year: 2026
Type: preprint
Abstract: The NF Data Portal (nf.synapse.org) is a free, open-science platform that centralizes data and resources related to neurofibromatosis (NF) and schwannomatosis (SWN), a group of rare genetic tumor predisposition syndromes. The portal hosts a growing collection of NF and SWN multimodal datasets including genomics, transcriptomics, proteomics and imaging with links to resources such as patient-derived tumor tissue collections, cell lines and preclinical models. The goal of the portal is to provide the broader academic and commercial research community with well-annotated, trusted datasets that can be used in a variety of ways, including asking new scientific questions, benchmarking new methods or tools, and combining datasets across studies. Ultimately, our mission is to accelerate the discovery of treatments and cures for NF and SWN through maximizing the global usability of high-quality data. . The NF Data Portal has a cross-institutional backbone of supporters composed of funding organizations, a data coordination center, and a community of clinicians and scientists. Together, this community has developed reusable building blocks for open science, including shared infrastructure, governance frameworks, metadata standards, and a structured data contribution lifecycle. In this publication, we reflect on over a decade of effort to support the data contributor and data user journeys. We share recent platform features and integrations and highlight newly available datasets. Whether longtime NF scientists or those encountering this resource for the first time, the NF Data Portal provides access to one of the largest NF datasets available to advance academic research, industry-driven discovery and therapeutic development. For industry users, the portal serves as a strategic translational research asset that supports target validation, biomarker discovery, patient stratification and data-driven decision making, helping to de-risk development programs and inform clinical strategy. As AI-driven analytical methods transform biomedical research, richly annotated, disease-specific datasets like those housed in the NF Data Portal, will be essential raw material for developing and validating new tools and novel treatments.
Language: English
Subfield: Neurology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W7204461056