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Rare Research Report
RDCRN
188 episodes
2 weeks ago
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org
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All content for Rare Research Report is the property of RDCRN and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Show more...
Science
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DSC: Developing a Fully Automated Algorithm for Tuber Segmentation and Quantification of Tuber Volume in Tuberous Sclerosis Complex
Rare Research Report
1 minute
2 weeks ago
DSC: Developing a Fully Automated Algorithm for Tuber Segmentation and Quantification of Tuber Volume in Tuberous Sclerosis Complex
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Epilepsia on November 19, 2025, titled "Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex." 

Read the paper here. 

Learn more about DSC. 

Transcript: 

Tuberous sclerosis complex (TSC) is a genetic disorder that leads to the growth of non-cancerous tumors in multiple organs. In the brain, these include “tubers,” areas of abnormal tissue just beneath the cortical surface that can cause seizures and disrupt normal brain function. Magnetic resonance imaging (MRI) is commonly used to identify how many tubers are present, how large they are, and where they are located. These features often relate to the type and severity of a person’s neurological symptoms.

In this study, researchers created a fully automated neural network (an artificial intelligence-based program) to detect tubers on MRI and measure their total volume. They trained the model using 263 brain MRI scans from 196 individuals with TSC. They then compared the algorithm’s performance with measurements made by an expert neuroradiologist.

The algorithm’s estimates of total tuber load showed an almost perfect match with the expert standard. The authors conclude that this tool provides an objective and consistent way to identify and measure tubers, which may improve the reliability of TSC research across different sites.
Rare Research Report
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.

Learn more about the RDCRN: https://www.rarediseasesnetwork.org