In January 2022, scientists of genetics from the University of Sheffield, England and the Stanford University School of Medicine in the US, have designed a machine learning tool, called RefMap, to identify risk genes for Motor Neurone Disease (MND). RefMap has already been utilised to discover 690 risk genes for the MND, many of which, are new discoveries. The discovered genes lead to a five-fold increase in discovered heritability, which describes how much of the disease is due to a variation in genetic factors. The findings could pave the way for new targeted therapeutics and genetic testing for the disease.
By applying machine learning for genome analysis, the researchers have been able to discover more hidden genes for human complex diseases such as MND. This would eventually power personalised treatment and intervention.
About the Discovery
One of the genes, highlighted by the researches as a new MND gene, is called KANK1. This gene has been shown by researchers to produce neurotoxicity in human neurons, very similar to that observed in the brains of patients. Though at an early stage, it is potentially a new target for the design of new drugs. According to the researchers, the new tool would aid in understanding and profiling the genetic basis of the disease.
Previously, only 15 genes were able to be linked to the illness. Therefore, most of the identified genes, such as KANK1, are new discoveries.
The AI tool, RefMap, would identify the risk genes by integrating genetic and epigenetic data. This tool has also been applied by the researchers to more diseases in the lab.
Machine Learning for Medical Diagnosis
Machine learning is an application of artificial intelligence (AI) which uses algorithms and statistics to find patterns in large amounts of data including pictures, numbers, and words, etc. The machine learning software analyses the data and makes predictions after applying patterns or algorithms.
The AI algorithm looks for a set of rules that allows the algorithms to conclude the general characteristics of elements within a group to apply learning to other similar elements. When the computer is given a completely new image, it predicts the correct label on the basis of previously acquired experience. Machine learning has become popular in healthcare for its ability to identify the disease in a relatively quick manner with accuracy.
Presently, machine learning technology is being explored and leveraged to shorten the diagnosis time of many diseases including cancer, COVID-19, etc. Application of AI models to predict the risk of contracting diseases is in an advance stage.
However, there are certain limitations as well. Machine learning cannot replace a doctor or a specialist. AI can swiftly diagnose the disease, but the treatment modality will have to be determined by the doctor only. Moreover, if the data is not of good quality or no patterns could be found in it, the analysis of the machine learning would be useless. Doctors and hospitals need to use recently discovered and more advanced to get machine learning models accurate results.
About Motor Neurone Disease
Motor Neurone Disease (MND) otherwise known as neurodegenerative disorders is referred to as a group of diseases in which the neurons die due to degeneration. It is a rare and severe form of neurodegenerative disorder. The nerves in the spine and brain lose function over time. Some MNDs are inherited, but most of the causes of the disease are not known. MND occurs in adults or children, depending upon the type. Men are more vulnerable to MND, which may appear usually between 55 and 75 years of age.
There is no cure or standard treatment for the MNDs. Symptomatic and supportive treatment could help patients to maintain their quality of life. Physical therapy rehabilitation may help to improve posture, prevent joint immobility, and slow muscle weakness and atrophy. This new tool will be helpful to treat a patient suffering from MND as the particular cause of the disease would be identified.
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