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Approved Research

Development and validation of Alzheimer's Disease polygenic risk score in non-Caucasian populations

Principal Investigator: Dr Qian Gao
Approved Research ID: 79599
Approval date: February 16th 2022

Lay summary

Dementia specifically Alzheimer's disease (AD) is a devastating and incurable disease having huge impact on the sufferers and is a massive burden on the National Health Service (NHS) and social care providers. There are estimated >850,000 dementia sufferers in the UK costing more than £26bn per year. With a growing aged population, the prevalence of AD is increasing and as such the societal burden will continue to increase. Patients often first present early non-specific symptoms, such as memory deficits, which are not specific to AD thus diagnosis is challenging. For patients with mild cognitive impairment (MCI), selection of the right management pathway is difficult. Despite the lack of disease-modifying therapies, there is significant benefit in an early definitive diagnosis of their condition and understanding of the expected disease trajectory. Diagnostic testing which can support definitive diagnosis including neurological imaging and cerebrospinal fluid (CSF) biomarker analysis are expensive and/or invasive and currently not routinely available beyond the clinical trial setting. A tool that can help the stratification of MCI patients into highest risk of developing AD whilst reducing the number of expensive confirmatory imaging tests would be beneficial globally. In addition to the value of early diagnosis in today's patient management, having a cost-effective way of identifying patients that will benefit from new disease modifying therapies will be critical. Recently the first approval of such a therapy, Aducanumab, has been achieved in the US with regulatory review ongoing in Europe and additional therapies are anticipated within the next 5-10 years. Timeliness of intervention is likely to have a substantial benefit on both current and future treatments. Finally, AD is a disease that is prevalent in all populations thus any tools developed for early risk assessment need to be equally accessible and efficacious in all ethnic populations for the broadest deployment possible. During the development of our initial product genoSCORE, Cytox has received input from multiple healthcare professionals representing many disciplines relevant to managing patients with cognitive health concerns. It is well recognised that understanding risk of future disease is increasingly important as the field begins to focus on preserving brain health rather than relying solely on treating or managing symptoms of AD. Given that genetic risk is unchanging and is the first detectable measure of risk prior to early detection of disease pathology, it is considered a critical component of stratifying patients in earlier stages of disease and pre-symptomatic individuals