Translucent brain with colorful mapped tumor regions, flowing RNA data streams, holographic genetic information, medical illustration, clean scientific visualization, black background
A new online tool developed by researchers at UofL promises to speed up the discovery of treatments for brain and nerve tumors.

A new online tool developed by researchers at the University of Louisville promises to speed up the discovery of treatments for brain and nerve tumors, especially rare ones that have had limited research attention.

A team led by Akshitkumar Mistry, a neurosurgeon and scientist at UofL and UofL Health, has created the听. It is the largest publicly available dataset of its kind and includes more than 7,000 tumor samples from the brain, spinal cord and nerves, which were drawn from biorepositories around the world. For each sample, the atlas combines gene activity data with clinical information such as patient age, tumor location and survival outcomes.

鈥淏rain and nervous system tumors are incredibly diverse,鈥 Mistry said. 鈥淭his tool helps researchers quickly understand how these tumors behave at the genomic level, which can point the way to new or repurposed treatments that might be tested in clinical trials.鈥

The team built the atlas by applying advanced machine learning techniques to tumor genomic data. It includes many extremely rare tumor types for which data have previously been sparse or unavailable.

Kentucky ranks among the highest in the nation for . Although brain cancers are rare, they are especially devastating and can affect people at any age. They are more common in children under 15 and adults over 64, and their causes remain poorly understood, leaving few options for prevention.

The atlas project was supported by the Kentucky Pediatric Cancer Research Trust Fund and the Kentucky Department for Public Health. Mistry鈥檚 work also is supported by the at UofL and by a UofL Presidential Scholars award.

A new tool to identify therapies

While the atlas is not meant to provide direct treatment recommendations, emphasized that it will enable researchers to classify tumors and identify therapies based on how their genes behave, going beyond traditional DNA mutations or histology. This deeper classification can reveal biological similarities to other cancers that already have approved therapies.

In his article about the atlas, published in the journal , Mistry and colleagues showed how the atlas identified new subtypes of听pheochromocytoma and paraganglioma, rare tumors of the nervous system. These subtypes expressed certain genes, such as听GHRandSST, at high levels. Drugs that target these genes already exist for other cancers and these subtypes can be easily identified by genetic analysis. Without examining the gene activity, clinicians would have no reason to test these drugs in patients with these rare tumors. Yet this valuable information is available in the atlas.

鈥淭hese are therapies that are already out there, but no one had thought to try them in these tumors,鈥 Mistry said. 鈥淣ow by using the atlas, we have the data to support testing them in clinical trials.鈥

Eyas Hattab, chair of UofL鈥檚 Department of Pathology and Laboratory Medicine and co-author of the article on the atlas, said it supports the development of personalized and targeted therapies for neurological cancers.

鈥淥ver the past two decades, brain tumor diagnostics have undergone transformative advances, driven by the integration of cutting-edge molecular and genetic technologies,鈥 Hattab said. 鈥淭he work by Dr. Mistry and colleagues builds on this progress by mapping RNA transcripts across a spectrum of CNS tumors, significantly enhancing diagnostic precision.鈥

UofL Health 鈥 Brown Cancer Center recently became the first facility in the U.S. to offer its patients access to an . The Illumina TruSight鈩 Oncology (TSO) Comprehensive test essentially scans a patient鈥檚 tumor sample for cancer mutations, evaluating both the DNA and RNA of a patient鈥檚 tumor to ensure they are matched with the most effective therapies or available clinical trials.

鈥淭he new atlas complements technologies such as the TSO Comprehensive by providing a broader view of how tumors function at the RNA level 鈥 essentially, what the tumor is听doing听rather than just what it听is,鈥 Mistry said.

Adding to the impact of their work, the methodology that Mistry and the research team used to build the atlas can also be applied to other rare diseases, giving researchers a powerful new framework to reuse and harmonize public data for maximum impact.

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Betty Coffman
Betty Coffman is a Communications Coordinator focused on research and innovation at UofL. A UofL alumna and Louisville native, she served as a writer and editor for local and national publications and as an account services coordinator and copywriter for marketing and design firms prior to joining UofL鈥檚 Office of Communications and Marketing.