Speeding-up genetic neurodegenerative disease research through sequencing standardisation, cross-border patient recruitment and new geographically-diverse datasets.

**Speeding genetic neurodegenerative disease research through genetic sequencing standardisation, cross-border patient recruitment and development of ethnically and geographically diverse disease datasets.**

Genetic neurodegenerative diseases (GND) such as Motor Neurone Disease(MND), Frontotemporal dementia(FTD), Lewy Body dementia, Alzheimer's disease affect over 250m people globally. There are hundreds of GNDs, with thousands of identified genetic causes, however less than 200 approved treatments for these conditions currently exist.

Taking up to 15 years and ~£119m to bring to market, potential therapies often show promise in Phase 2 trial results, then prove to be ineffective in the subsequent, larger-scale Phase 3 trials.

GND clinical trials in particular take a significant amount of time, resources, and funding to recruit the right patients at the right stage of disease, with many failing due to poor recruitment and engagement. Trials in GND can take many years to show efficacy due to the progressive nature of disease, so engagement and delivering value to participants is a key requirement.

With this in mind, in November 2021 the UK GOV committed £375 million over the next five years in research funding to help people living with neurodegenerative diseases live longer, healthier lives.

We intend to support and complement this research with the development of a new patient recruitment, engagement, and research tool, providing researchers and drug discovery companies with timely access to global GND patient pools and rich multimodal datasets (genomic/phenotype/health record) for AI-driven drug discovery and patient stratification for clinical trials.

The project builds upon work with Genomics England on a rare disease patient portal (IUK---project---105415). The platform will be designed to be international, with careful mapping of user-journeys against local laws/regulations, ensuring full compliance.

MND will be the project test-case, a genetically complex condition affecting ~250k globally and 5,000 in the UK.

The first global research tool for GND, the platform will be multi-lingual, provide global genetic testing capabilities and enable clinical trial recruitment from diverse ethnic and geographic bases, not only for symptomatic patients but also for pre-symptomatic/asymptomatic people who have been identified as at-risk.