Researchers map rare DHDDS disease mechanism using lab-grown mini brains

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Researchers used patient-derived mini-brains to uncover how rare DHDDS mutations drive a progressive neurodegenerative disease. The models showed reduced dolichol, faulty glycan formation, cholesterol buildup in astrocytes, and downstream mitochondrial dysfunction. The team also screened therapies with a biotech partner and found that NMN, a form of vitamin B3, improved both yeast and mini-brain models. A new international NMN supplementation trial has started for DHDDS-related disease, supported by CDG UK funding. The case highlights how lab models and rare-disease research can accelerate treatment development.

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