A new cerebral organoid (“mini-brain”) disease model has been described in a study published in Nature Neuroscience and led by Dr András Lakatos, Department of Clinical Neuroscience, University of Cambridge, with Dr Kornélia Szebényi as primary author. The work highlights cell-type specific lesions in the initial stages of amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). The research results provide a novel and reproducible human translational platform for investigating preclinical ALS/FTD mechanisms and early preventive and therapeutic approaches, thus helping to deepen our understanding of these neurodegenerative diseases and develop more effective therapies.

ALS/FTD is a fatal and rapidly deteriorating neurological spectrum disorder leading to muscle paralysis and cognitive decline, for which there are currently no treatments to halt or reverse. The development of therapies has so far been significantly hampered by the lack of complex and reliable human models capable of accurately assessing the mechanisms of pathology at the onset and throughout the course of the disease.

Dr Kornélia Szebényi has been working as a postdoctoral researcher in the lab of Dr András Lakatos for the past four years, using stem cells from ALS/FTD patients to produce “mini-brains”. This allowed the observation of early and distinct gene expression and protein homeostasis changes in different cell populations relevant to the disease. The researchers have also shown that these changes can be reversed.

In November 2021, Dr Kornélia Szebényi joined the Metabolic Drug Interactions Research Group at the ELKH Research Centre for Natural Sciences (TTK), where she will use brain organoid models to study neurotoxicity and neurodegenerative disorders in close collaboration with the Cambridge research group.

An English-language summary of the paper can be found here.