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Machine Learning Identifies Nine Repurposed Drugs for Sanfilippo

Researchers paired machine learning with human stem-cell models to identify compounds that reduce neurodegeneration within two weeks.

WHAT YOU NEED TO KNOW
  • Researchers generated human iPSC-derived cortical cultures to model Sanfilippo syndrome (MPS IIIA).
  • A screening platform combined machine learning, confocal imaging, single-nuclei transcriptomics, and electrophysiology.
  • At least nine repurposed compounds mitigated adverse neurodegenerative markers within two weeks in vitro.

Researchers have identified at least nine repurposed compounds that reduce cellular damage in preclinical models of childhood dementia, according to a peer-reviewed study published in Nature Communications.

Led by co-lead authors Zarina Greenberg and Ella McDonald alongside senior author Cedric Bardy, the research team focused on Mucopolysaccharidosis Type IIIA (MPS IIIA), also known as Sanfilippo syndrome. MPS IIIA is a prevalent childhood dementia characterized by neurocognitive decline and cellular mechanisms shared with adult neurodegenerative conditions.

The scientists generated cortical cultures from patient-derived induced pluripotent stem cells (iPSCs) to model the disease in human tissue. These laboratory-grown cultures replicated key disease features observed in patients, including lysosomal dysfunction, heparan sulfate accumulation, astrocytic reactivity, and progressive neurodegeneration.

To evaluate potential therapies, the team created a multimodal testing platform. The system integrated machine learning with high-content confocal imaging, single-nuclei transcriptomics, and electrophysiological measurements to track cellular responses.

The platform screened drug candidates and identified at least nine repurposed compounds that significantly mitigated adverse cellular effects within two weeks of treatment in vitro. The authors noted that using existing compounds offers potential for rapid clinical translation.

The work brought together investigators from the South Australian Health and Medical Research Institute (SAHMRI), Flinders University, the Sanfilippo Children's Foundation, and the Childhood Dementia Initiative, with compound management support provided by Compounds Australia.

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