The Edinburgh Molecular Mechanisms Cluster

现代医学使医生能够比以往更好地治疗疾病，但仍有很多东西需要学习。人类遗传学可以提供帮助。从阿尔茨海默氏症到COVID-19，已经发现了成千上万的基因是许多毁灭性疾病的基础。这些基因有时会给我们一些线索，可以帮助所有患有这种疾病的人，而不仅仅是那些有特定基因的人。我们已经证明这是有效的：我们在严重的COVID-19中发现了一种基因，直接导致了一种新的有效治疗方法。为了实现从疾病基因到治疗的飞跃，我们需要更好的信息，了解疾病基因在人体正确细胞类型中的实际作用，以及在模拟真实疾病的条件下的作用。我们的计划是建立一个系统来研究基因如何在难以获得的细胞类型和条件下起作用。我们将使用病人捐赠的真实人体样本，否则这些样本将被丢弃。我们已经能够用大脑、肺和皮肤的样本来做这件事。为了更接近地模拟病人体内复杂的环境，我们将在样本中加入一系列不同的化学物质，看看基因和细胞发生了什么变化。我们将迅速与世界各地的科学家分享我们的数据，推动医学研究和药物开发向前发展。我们将建立一个由医生和科学家组成的社区，帮助我们找到最重要、最有用的基因功能。总之，我们的系统将提供更多关于基因的信息，以及它们如何使疾病好转或恶化，让我们有机会找到更好、更准确的治疗方法，帮助更多的病人。

Modern medicine enables doctors to treat diseases better than ever before, but there is still much more to learn. Human genetics can help. Tens of thousands of genes have been found underlying a number of devastating diseases, from Alzheimer's to COVID-19. These genes sometimes gives us clues that can help everyone with that disease, not just people who have particular genes. We have already shown that this works: we found a gene in severe COVID-19 that led directly to a new and effective treatment.To make the jump from disease gene to treatment, we need better information about what disease genes actually do in the right cell types from the human body, and in conditions that mimic real disease. Our plan is to set up a system to study how genes work in hard-to-get cell types and conditions. We will use real human samples, donated by our patients, that would otherwise be discarded. We are already able to do this with samples of brain, lung, and skin. To mimic the complicated environment inside a patient even more closely, we will then add a range of different chemicals to the samples and see what happens to the genes, and the cells. We will share our data quickly with scientists across the world to move medical research and drug development forward. We will build a community of doctors and scientists to help guide us towards the most important and useful gene functions. Together, our system will give much more information about genes and how they work to make disease better or worse, giving us a chance to find better and more accurate treatments to help more patients.