UCL Neurodegenerative Disease Human Tissue Resource

大脑和脊髓疾病很常见，随着年龄的增长，影响到越来越多的人。像阿尔茨海默氏症(AD)和帕金森氏症(PD)这样的疾病会影响许多老年人，但也可能在年轻人生活中出现，特别是在有遗传原因的情况下。其他痴呆症和运动神经元病(MND)也是如此。这些情况的特征都是特定的神经元组(脑细胞)死亡，被称为神经退行性疾病(NDDS)。它们是渐进性的，最终是致命的，目前还没有治愈这些疾病的方法，也是人口残疾的主要来源。科学家和医生正在努力了解这些疾病和许多其他疾病，但治疗它们的原因和方法需要更多的研究。虽然有价值的信息可以从疾病的动物模型、培养皿中培养的细胞，甚至是计算机模拟中获得，但在人体组织中测试想法本身是不可替代的。人体组织研究通常是开始临床试验之前的初步步骤，特别是新的治疗方法。出于这个原因，“生物库”已经被开发出来，它可以收集、表征和存储人类的大脑和脊髓组织，包括患有和不患有神经系统疾病的人。这些组织和相关数据随后被提供给需要研究人体组织的研究项目。这项提议的目标有几个方面。首先，目前的收集程序将大大扩大，从8个研究非常充分的患者队列中招募大脑和神经组织捐赠，这些患者患有各种NDDS，包括AD和其他痴呆、PD、MND以及对照组的大脑。一项新的初步研究与唐氏综合症有关，唐氏综合症是智力残疾和早期阿尔茨海默病的常见原因。我们将从胚胎、胎儿、儿童和患有这种疾病的成年人那里收集大脑材料，这样我们就可以了解这种疾病在整个生命周期中的发育情况。然后，这种寿命方法可以应用于其他NDD，特别是遗传性NDD。其次，我们需要最大限度地利用捐赠的大脑材料。这包括缩短个体死亡和大脑获得之间的时间间隔，以便组织尽可能健康地进行研究。需要将许多类型的数据链接到每个大脑样本，以便为研究人员提供丰富的资源，其中包括来自医院病历的信息、磁共振成像等成像数据、实验室结果和病理科的显微镜幻灯片。基因数据(DNA序列)对研究特别有价值，我们将确保所有样本都经过基因分析。这项建议的第三个目标是开发一个用户友好的基于网络的计算机平台，其中所有样本和相关的临床信息都被编目，以便正在寻找特定组织类型、疾病或阶段的研究人员可以搜索它们。我们将与MRC Dementias Platform UK信息学团队合作开发这样一个平台。UCL神经退行性疾病人类神经组织资源将为这一领域的研究提供组织供应方面的阶段性变化。

Diseases of the brain and spinal cord are common and affect increasing numbers of people with advancing age. Conditions like Alzheimer's (AD) and Parkinson's (PD) affect a many elderly individuals, but can also present from young adult life particularly when there is a genetic cause. The same is true for other dementias and motor neuron disease (MND). These conditions are all characterised by death of specific groups of neurons (brain cells) and are referred to as neurodegenerative diseases (NDDs). They are progressive and eventually fatal and, currently, there is no cure for these disorders and a major source of disability in the population.Scientists and doctors are working to understand these and many other conditions, but the causes and methods for treating them require much more research. While valuable information can be obtained from animal models of disease, cells grown in a dish, and even computer simulations, there is no substitute for testing ideas in human tissue itself. Human tissue research is often a preliminary step before embarking on a clinical trial, especially for new treatments. For this reason, 'biobanks' have been developed that collect, characterize and store brain and spinal cord tissues from humans, both with and without nervous system diseases. These tissues, and associated data, are then provided to research projects thatneed to study human tissue.The goals of this proposal are several-fold. First, the current collection procedures will be greatly expanded by recruiting brain and nervous tissue donation from eight cohorts of very well studied patients with a variety of NDDs including AD and other dementias, PD, MND as well as control brains. A novel pilot study relates to Down Syndrome, a common cause of intellectual disability and early AD type dementia. We will collect brain material from embryos, fetuses, children and adults with this condition so we can understand the development of the condition in the brain over the entire lifespan. This lifespan approach can then be implemented for other NDDs particularly genetic ones. Secondly, we need to maximize the value of the donated brain material. This includes reducing the time-gap between death of the individual and acquisition of the brain, so that the tissue is as healthy as possible for research. Many types of data need to be linked to each brain sample, to provide a rich resource for the researchers, and this includes informationfrom hospital notes, imaging data like MRIs, lab results, and microscope slides from the pathology department. Genetic data (the DNA sequence) is particularly valuable for research, and we will ensure that all samples undergo genetic analysis.The third goal of this proposal is to develop a user-friendly web-based computer platform where all samples and associated clinical information are catalogued, so they can be searched by researchers who are seeking particular tissue types, diseases or stages. Working with the MRC Dementias Platform UK informatics team we will develop such a platform.The UCL Neurodegenerative disease Human nervous tissue resource will offer a step-change in the provision of tissue for research in this area.