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

通过测序标准化、跨境患者招募和新的地理多样化数据集，加速遗传性神经退行性疾病研究。

• 批准号: 10030310
• 金额: $ 41.69万
• 依托单位: SANO GENETICS LIMITED
• 依托单位国家: 英国
• 项目类别: Collaborative R&D
• 财政年份: 2022
• 资助国家: 英国
• 起止时间: 2022 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=10030310
• 关键词: Speeding; up; genetic; neurodegenerative; disease

**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.

**通过基因测序标准化、跨境患者招募和开发种族和地理多样化的疾病数据集，加快遗传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、阿尔茨海默病等，影响全球超过2.5亿人。有数百种GNDs，有数千种已确定的遗传原因，但目前针对这些疾病的批准治疗方法不到200种。将潜在的疗法推向市场需要长达15年的时间和1.19亿英镑的资金，这些疗法往往在第二阶段的试验结果中显示出希望，然后在随后的更大规模的第三阶段试验中被证明无效。GND临床试验尤其需要花费大量的时间、资源和资金，才能在疾病的正确阶段招募合适的患者，许多试验由于招募和参与不力而失败。由于疾病的进行性，GND的试验可能需要多年时间才能显示出效果，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，英国政府于2021年11月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。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，为研究人员和药物发现公司提供及时访问全球GND患者库和丰富的多模态数据集（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，确保完全遵守。MND将是该项目的测试案例，这是一种基因复杂的疾病，影响全球约25万人，英国约5000人。该平台是GND的首个全球研究工具，将是多语言的，提供全球基因检测能力，并能够从不同种族和地理基础招募临床试验，不仅适用于有症状的患者，也适用于已确定为有风险的症状前/无症状患者。