141: Refining TSC Care: Phenotyping, Clustering, And Clinical Impact NeurologyLive® Mind Moments® podcast

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141: Refining TSC Care: Phenotyping, Clustering, and Clinical Impact

1d ago 22:07

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Welcome to the NeurologyLive® Mind Moments® podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice.
In this episode, "Refining TSC Care: Phenotyping, Clustering, and Clinical Impact," Ajay Gupta, MD, director of the Tuberous Sclerosis Program at Cleveland Clinic, discusses recently published research that used unsupervised clustering to group over 900 patients with tuberous sclerosis complex (TSC) into four clinically meaningful phenotypic clusters. He outlines the distinct traits of each cluster—ranging from tumor risk to cognitive impairment—and explains how variant-specific genetic data helped reinforce these categories. Gupta, who also serves as a professor of neurology at the Cleveland Clinic Lerner School of Medicine, also explores the clinical value of these findings for surveillance planning, early intervention, and future therapeutic trials. He emphasizes that while overlap between clusters exists, this approach lays essential groundwork for precision care and more targeted research in TSC.
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Episode Breakdown:

1:00 – Study goals and the shift from genotype-to-phenotype toward phenotype-to-genotype mapping
2:40– Overview of the 4 main phenotypic clusters identified in the TSC population
8:05 – Genetic domain associations and their impact on clinical monitoring and treatment
11:50 – Neurology News Minute
14:45 – Understanding overlap between clusters and avoiding overprediction in clinical settings
17:00 – Implications for future surveillance strategies and precision candidate selection in TSC trials

The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here:

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