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Approved Research

Neurodegenerative diseases determinants and gene-environment interactions analyses

Principal Investigator: Dr Lucie Eguether
Approved Research ID: 78425
Approval date: February 16th 2022

Lay summary

Neurodegeneration is caused by the death of nerve cells in the brain. Many neurodegenerative diseases, including Alzheimer's (AD) and Parkinson's diseases (PD) or Amyotrophic Lateral Sclerosis occur because of neurodegenerative processes.

Neurodegeneration is a growing public health concern worldwide, and prospective, population-based studies are necessary to improve our understanding of its history and risk factors. In the UK, over 145,000 people are living with PD, and someone is newly diagnosed every hour. It is projected that more than 250,000 patients will be living with PD in the UK by 2065 if no disease-modifying treatment becomes available. PD affects ~ 7 million people worldwide and among the 50 million people affected by dementia, AD is the most common form and may contribute to 60-70% of cases.

While the cause of neurodegeneration is unknown, many factors have been found to contribute to disease development and progression. Interestingly, connections between the gut and the brain have recently been discovered as a potential linked to diseases. Indeed, gastrointestinal problems are very common for PD patients, and it is thought that they are caused by a change in the composition of the bacteria in our gut (referred to as the microbiome).

It is now clear that neurodegenerative diseases such as PD or AD involve a complex interplay between genetics, biology, and environment, all contributing to the wide variety of symptoms and progression of the disease over time. This gives patients uncertainty regarding quality of life and therapeutics.

The UK biobank contains genetic and health information from more than 500,000 individuals living in the UK. Using this massive and detailed resource, we hope to find new biological markers specific to neurological diseases. One of the most consistent risk factors for developing such a disease is increasing age, and the age at which the patient is diagnosed greatly impacts the treatments they have available. Using a combination of lifestyle and environmental data (aim 1), blood samples (aim 2) and genomic data (aim 3) we hope to be able to predict earlier the risks to develop such diseases. We estimate that such project will take between one to three years for completion.

Finding parameters that contribute to neurodegeneration will allow us to help diagnose neurodegenerative disorders earlier in the life of patients.