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The machine learning tool, called RefMap, was designed by researchers at the University of Sheffield and Stanford University School of Medicine, and the team has used it to identify 690 risk factors for motor neuron disease.
One of the genes highlighted as a new MND gene, dubbed KANK1, has been shown by the team to produce neurotoxicity in human neurons, very similar to that observed in patient brains
Dr Johnathan Cooper-Knock, from the University of Sheffield's Institute of Neuroscience, said: "This new tool will help us understand and characterize the genetic basis of MND
"Each newly identified risk gene is a potential target for the development of new treatments for MND and may also pave the way for genetic testing in families to determine risk
The 690 new genes identified through RefMap resulted in a 5-fold increase in the discovery of heritability, a measure used to describe the extent to which the disease is caused by variation in genetic factors
RefMap identifies risk genes by integrating genetic and epigenetic data
Michael Snyder, Ph.
Journal Reference :
Sai Zhang, Johnathan Cooper-Knock, Annika K.
