Novel research by Cambridge scientists enable deeper understanding of the initial pathophysiological steps in neurodegenerative diseases and hints at possible novel treatments.

By developing a novel human brain organoid disease model, a recent study led by Dr András Lakatos (Department of Clinical Neurosciences, University of Cambridge) and first-authored by Dr. Kornélia Szebényi has shed light on initial cell-type-specific changes in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD).

ALS and FTD are fatal and rapidly progressing neurological conditions that lead to muscle paralysis and cognitive decline. There are currently no treatments that can stop or reverse the disease, and the therapeutic treatment development had been hampered by the lack of complex and reliable human models for investigating precise mechanisms of initial and progressing disease pathology.

Dr Kornélia Szebényi, a postdoctoral researcher in the Lakatos Lab at Cambridge, has used stem cells of ALS/FTD patients to generate “mini brains”. This allowed the observation of early and distinct transcriptional and proteostasis changes in different disease-relevant cell populations, which could be pharmacologically rescued.

Published in Nature neuroscience, their work provide a novel and reproducible human translational platform to investigate preclinical ALS/FTD mechanisms as well as early preventive and therapeutic approaches. The full press release can be found here.

From November 2021, Dr Kornélia Szebényi will join the Metabolic Drug-interactions Research Group at the Research Centre for Natural Sciences to utilize the cerebral organoids in neurotoxicity research and to investigate diseases of the nervous system in close collaboration with the research group in Cambridge.