AI reveals new genetic variations and interactions linked to Alzheimer’s disease

A team of Australian researchers has used artificial intelligence (AI) to discover new genetic variations and interactions that could contribute to the onset of Alzheimer’s disease, the most common form of dementia.

Alzheimer’s disease is a progressive neurodegenerative disorder that destroys memory and thinking ability. It is the most prevalent form of dementia, accounting for 60-80% of all cases1. It has no known curative treatments and is expected to affect more than 82 million people and cost US$2 trillion by 2030.

The causes of Alzheimer’s disease are not fully understood, but genetic factors are known to play a role. About 70% of the risk of developing the disease is estimated to be inherited from one’s parents. However, only a few genes have been identified that directly cause Alzheimer’s disease, and these account for less than 5% of all cases. The majority of the genetic risk remains unexplained.

AI reveals new genetic variations and interactions linked to Alzheimer’s disease
AI reveals new genetic variations and interactions linked to Alzheimer’s disease

AI helps to uncover new genetic insights into Alzheimer’s disease

In an effort to unravel the genetic mystery of Alzheimer’s disease, a team of researchers from the Australian e-Health Research Centre (AEHRC) – a division of the national science agency the Commonwealth Scientific and Industrial Research Organisation (CSIRO) – used AI to analyse large sets of genetic data from Alzheimer’s and healthy individuals.

The researchers applied a machine learning technique called deep learning, which mimics the way the human brain learns from data, to identify novel patterns and associations among millions of genetic variants. They also used a network analysis approach to examine how these variants interact with each other and with known Alzheimer’s genes.

The study, published on Wednesday in the journal Nature Communications, revealed two new genetic variations and 95 gene interactions that could influence the risk of developing Alzheimer’s disease. These findings provide new insights into the biological mechanisms and pathways involved in the disease, and could lead to new targets for diagnosis and treatment.

The study has implications for personalised medicine and prevention

Dr Denis Bauer, the lead author of the study and the head of the transformational bioinformatics group at AEHRC, said that the study demonstrated the power of AI to uncover new genetic clues for complex diseases like Alzheimer’s.

“By using AI, we were able to find new genetic variations and interactions that were not detectable by traditional methods. This opens up new possibilities for personalised medicine and prevention, as we can use this information to tailor interventions and therapies based on an individual’s genetic profile,” Dr Bauer said.

Dr Bauer also said that the study could help to identify people who are at high risk of developing Alzheimer’s disease, and enable early intervention and lifestyle changes to delay or prevent the onset of the disease.

“Alzheimer’s disease is a devastating condition that affects millions of people and their families. By using AI, we hope to contribute to the global effort to find a cure and improve the quality of life of those affected by this disease,” Dr Bauer said.

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