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

** 通过基因测序标准化、跨境患者招募以及开发种族和地理上多样化的疾病数据集，加快遗传性神经退行性疾病的研究。遗传性神经退行性疾病（GND），如运动神经元病（MND）、额颞叶痴呆（FTD）、路易体痴呆、阿尔茨海默病影响全球超过2.5亿人。有数百种GND，其中有数千种已确定的遗传原因，但目前只有不到200种获批的治疗方法用于这些疾病。需要长达15年和约1.19亿英镑才能推向市场，潜在的治疗方法通常在2期试验结果中显示出希望，然后在随后的更大规模的3期试验中证明无效。特别是GND临床试验需要大量时间，资源和资金，以招募处于正确疾病阶段的正确患者，许多人由于招募和参与不足而失败。由于疾病的渐进性，GND试验可能需要多年时间才能显示疗效，因此参与并为参与者提供价值是一项关键要求。考虑到这一点，2021年11月，英国政府承诺在未来五年内提供3. 75亿英镑的研究资金，以帮助患有神经退行性疾病的人活得更长，更健康的生活。我们打算通过开发新的患者招募，参与和研究工具来支持和补充这项研究，为研究人员和药物研发公司提供及时访问全球GND患者库和丰富的多模式数据集的机会（基因组/表型/健康记录）用于人工智能驱动的药物发现和临床试验的患者分层。该项目建立在与Genomics England在罕见疾病患者门户网站（IUK-project-105415）上的合作基础上。该平台将被设计成国际化的，根据当地法律/法规仔细绘制用户旅程，确保完全合规。MND将成为项目测试案例，这是一种遗传复杂的疾病，影响全球约25万人，在英国影响5，000人。GND的第一个全球研究工具，该平台将是多语言的，提供全球基因检测能力，并从不同种族和地域招募临床试验人员，不仅针对有症状的患者，而且针对已被确定为风险的症状前/无症状患者。

**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.