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Human iPSC-derived models for Huntington’s Disease with large CAG repeat expansion

Watch Webinar

Human iPSC-derived models for Huntington’s Disease with large CAG repeat expansion

Presented by: Dr. Sara Barreto

Huntington’s disease (HD) is a genetic, progressive neurodegenerative disorder inherited in an autosomal dominant manner. It primarily affects the basal ganglia, leading to a severe loss of striatal neurons. Patients suffer from a range of motor, cognitive and psychiatric symptoms.

Currently, there is no cure, highlighting the urgent need for innovative research approaches. Developing physiologically relevant striatal neurons in vitro is vital for uncovering disease mechanisms and advancing therapies.

Watch this webinar where Dr Sara Barreto discussed:

  • The challenges in HD research, including the complexities of modelling the disease and replicating its progressive pathology in the lab.
  • The instability of the CAG repeat region in a 127 CAG patient-derived iPSC line, now expanded to 143 CAG repeats and still increasing with culture.
  • How the striatal neurons, the most affected cell type in HD, differentiated from the 127 CAG line also show continued CAG expansion with prolonged maturation, along with distinct morphological and functional changes compared to healthy lines