Genes & Health Longitudinal Population Study

基因与健康是一项涉及英国、孟加拉国和巴基斯坦人健康研究的大型研究。与欧洲白人相比，这些背景的人健康状况不佳的比例更高（例如，2型糖尿病和心血管疾病的发病率分别是白人的四倍和两倍）。英属南亚人在健康和基因组研究中的代表性不足，进一步加剧了他们面临的健康不平等。例如，在全球全基因组关联研究（最常见的遗传研究类型之一）中，只有约2%的参与者是南亚人，尽管南亚人口占世界人口的约25%。基因与健康正在成功地纠正这种不平衡，并证明了对全球研究阶段的宝贵贡献。自2015年启动以来，基因与健康通过与它所代表的社区进行广泛和持久的接触，成功招募了50,455名志愿者。基因与健康是一种可供全球研究界使用的科学资源，从而确保从这些志愿者的贡献中获得最大的健康效益。通过基因与健康已经支持的研究，它已经产生了几个主要影响，包括：1。发现基因完全敲除对健康和疾病的影响。支持开发一种新药（Lumasiran），用于治疗一种导致儿童严重健康不良的罕见遗传疾病。这是对一个揭示我们的基因如何使我们更容易患上covid -19或因covid -19而不适的联盟的重大贡献。利用遗传数据改进对2型糖尿病高危人群的预测。尽管这些早期的成功，基因与健康现在正处于关键阶段，其可持续性和增长潜力不确定。在MRC纵向人口研究计划的资助下，基因与健康将能够在英国南亚这一代表性不足的人口中进行健康和疾病的长期研究，并与其他有价值的研究队列研究一起工作，以获得最大的利益。这笔资金还将使“基因与健康”得以发展，并更好地解决尚未得到满足的卫生需求领域，包括心理健康和妊娠健康。我们的建议主要集中在以下几个方面：通过对核心研究团队的支持，支持基因与健康的整体可持续性，超越其当前基础设施资金的持续时间，并产生丰富的纵向数据。提供基因与健康“回忆”研究的增长，现有的志愿者被邀请参加额外的研究，并在显著的附加价值3。扩大心理健康和怀孕方面的数据收集，以解决未满足卫生需求的领域4。增加基因与健康数据资源，以确保它可以与其他队列研究保持一致，以确保分析结果大于各部分的总和。为此，我们寻求额外的资金，这将支持一些额外的高级学术专家的投入，以及一个扩大的个人团队来实现我们的目标。

Genes & Health is a large study involving British Bangladeshi and Pakistani people in health research. People from these backgrounds experience higher rates of ill health compared to White Europeans (e.g. type 2 diabetes and cardiovascular disease are four times and twice as common, respectively). The health inequalities faced by British south Asians are further exacerbated by their underrepresentation in health and genomic research. For example, only ~2% of participants in global genome-wide association studies (one of the commonest types of genetic study) are south Asian despite making up ~25% of the world's population. Genes & Health is succeeding in redressing some of this imbalance and is proving a valuable contributor to the global research stage.Since it started in 2015, Genes & Health has managed to recruit 50,455 volunteers, through extensive and lasting engagement with the communities it represents. Genes & Health exists as a scientific resource available for a global research community to use, thereby ensure that the greatest benefits to health are achieved from the contributions of these volunteers. Through the research that Genes & Health has already supported, it has already had several major impacts, including:i. Discovering how complete gene knockouts contribute to health and diseaseii. Supporting development of a new drug (Lumasiran) for a rare genetic disease causing severe ill-health in childreniii. A significant contribution to a consortium uncovering how our genes make us more susceptible to developing, or getting unwell from, COVID-19iv. Improving the prediction of who is at risk of developing type 2 diabetes using genetic datav. Uncovering a new biological pathway involved in childhood growth and pubertyDespite these early successes, Genes & Health is now at a critical phase, with its sustainability and potential for growth uncertain. With funding from the MRC Longitudinal Population Study scheme, Genes & Health will be able to sustain itself as a long-term study of health and disease in this underrepresented population of British south Asians, working together with other valuable research cohort studies for maximal benefit. This funding will also allow Genes & Health to grow and better address areas of health need which remain unmet, including mental health and pregnancy health. Our proposal focuses on the following areas:1. Supporting the overall sustainability of Genes & Health through support of its core research team, beyond the duration of its current infrastructure funding, and to generate rich longitudinal data.2. Delivering growth of Genes & Health 'recall' studies, where its existing volunteers are invited to participate in additional research, and where significant added value lies3. Expanding data collection in mental health and pregnancy, to address areas of unmet health need4. Growing the Genes & Health data resource to ensure it can be aligned to other cohort research studies to ensure analyses that are greater than the sum of their parts.To do this, we seek additional funding, which will support the input of some additional senior academic experts, and an expanded team of individuals to deliver our ambition.