New AI model identifies genes responsible for motor neurone disease

The model has so far identified 690 risk genes for MND, many of which are discoveries.


Motor neurone disease (MND), a rare condition that affects the brain and nerves, is mainly caused by a complex disease called Amyotrophic lateral sclerosis (ALS).

Now scientists at the University of Sheffield and the Stanford University School of Medicine in the US have developed a new AI model called RefMap to identify genetic risk factors for MND.

Using the tool, scientists identified 690 risk genes for motor neurone disease. The discovery of these genes led to a five-fold increase in discovered heritability.

KANK1 is one of the highlighted genes that cause neurotoxicity in human neurons.

Dr. Johnathan Cooper-Knock, from the University of Sheffield’s Neuroscience Institute, said: “This new tool will help us to understand and profile the genetic basis of MND. Using this model, we have already seen a dramatic increase in the number of risk genes for MND, from approximately 15 to 690.”

“Each new risk gene discovered is a potential target for the development of new treatments for MND and could also pave the way for genetic testing for families to work out their risk of disease.”

Sai Zhang, Ph.D. instructor of genetics at the Stanford University School of Medicine, said, “RefMap identifies risk genes by integrating genetic and epigenetic data. It is a generic tool, and we are applying it to more diseases in the lab.”

Michael Snyder, Ph.D., professor, and chair of the department of genetics at the Stanford School of Medicine and also the corresponding author of this work, added: “By doing machine learning for genome analysis, we are discovering more hidden genes for complex human diseases such as MND, which will eventually power personalized treatment and intervention.”

According to scientists, the findings could pave the way for new targeted therapeutics and genetic testing for the disease.

Journal Reference:

  1. Sai Zhang et al. Genome-wide identification of amyotrophic lateral sclerosis genetic basis. DOI: 10.1016/j.neuron.2021.12.019


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