Children’s Tumor Foundation Enables Use of Rare Disease Data in Neurofibromatosis Research

CTF helps researchers extract more scientific value from existing NF gene expression datasets, accelerating discovery without regenerating data

The Children's Tumor Foundation (CTF) has enabled deeper, sustained use of gene expression data in neurofibromatosis and schwannomatosis (known collectively as NF) research, allowing scientists to easily explore more biology from existing datasets and pursue new scientific questions over time.

In rare disease research, where patient samples and research data are limited, maximizing the value of existing datasets is essential. Over time, CTF and other funders such as The Neurofibromatosis Therapeutic Acceleration Program (NTAP) and the Gilbert Family Foundation (GFF) have supported the creation of multiple whole-genome NF gene expression datasets, each measuring tens of thousands of genes.

The data is secure, well-curated, and responsibly stewarded in partnership with Sage Bionetworks on the NF Data Portal. The integration of Pluto.bio is geared toward usability, enabling scientists with limited bioinformatics training to interrogate the data, revisit it, and apply it to new scientific questions.

CTF selected NF gene expression datasets and made them available through Pluto.bio, a collaborative scientific environment designed to make complex biological data directly usable by researchers. Within Pluto, NF datasets were integrated together with their metadata, pipelines, and analytical parameters, preserving full scientific context while enabling use by scientists without custom code or bespoke analysis. These data sets are available now to Pluto users.

Within this environment, researchers can inspect quality control, generate exploratory analyses in minutes, trace results back to methods and parameters, and pursue multiple hypotheses from the same dataset without rework. Because hypotheses, methods, and results remain linked, new analyses build directly on what came before, rather than starting from scratch.

Through CTF's NF Data Utilization Award , funded academic teams are now analyzing approximately 108 million data points across 12 rare NF datasets, with additional datasets continuing to be added. Instead of single-pass analysis, the same data now supports multiple scientific questions over time.

Progress comes from reuse, not regeneration.

The data is available through the NF Data Portal, and this scientific environment in Pluto gives researchers an opportunity to make those datasets actionable, allowing researchers to work deeply, efficiently, and collaboratively.

By enabling sustained reuse of rare disease data without compromising provenance or reproducibility, CTF is helping scientists move faster and further in NF research, ultimately in service of patients who depend on better-informed discovery.

To access the CTF space in Pluto.bio and view the curated datasets, please submit a request