MRC Centre for Neurodevelopmental Disorders

神经发育障碍是一组大脑发育受到干扰的疾病。这可能表现为神经精神问题或运动功能、学习、语言或非语言交流受损。这些疾病包括癫痫、智力残疾、自闭症，甚至其他起病较晚的疾病，如精神分裂症。这些疾病很难治疗，往往会导致终生残疾。大脑的发育是一个高度协调的过程，由遗传信息控制，受到非常明显的环境影响。在人类中，大脑发育从早期生命延长到青春期，在青春期，神经元之间的许多连接，大脑的细胞，被积极地重塑。任何偏离这一非常旷日持久的计划都会导致神经发育障碍，并根据具体的时间安排，可能会在以后的生活中导致不同的病理。神经发育障碍有一个突出的遗传基础，尽管这并不一定意味着它们是遗传的。例如，许多患者携带从头突变--由于父母之一的生殖细胞(卵子或精子)或受精卵本身的突变，首次出现在一个家庭成员中的基因突变。人类遗传学的最新进展已经确定了这些疾病的特定突变。不幸的是，我们仍然不知道这些突变和伴随的环境侮辱是如何导致神经发育障碍的。我们的愿景是在伦敦国王学院建立一个世界级的中心，其研究项目将改变我们对神经发育障碍起源的理解。为此，我们将在人类患者和动物模型中研究这些疾病的生物学机制。我们还将培训和培育这一领域的下一代科学领袖，他们有能力打破基础研究和临床学科之间存在的界限。长远而言，我们的目标是与工业合作伙伴、其他研究中心和患者协会合作，将新知识转化为临床进步，改变受影响个人及其家人的生活。

Neurodevelopmental disorders are a group of disorders in which the development of the brain is disturbed. This can manifest as neuropsychiatric problems or impaired motor function, learning, language or non-verbal communication. These disorders include epilepsy, intellectual disability, autism, and even other diseases with a relatively late onset, such as schizophrenia. These disorders are very difficult to treat and often cause a life-long disability. The development of the brain is a highly orchestrated process, controlled by genetic information under very clear influence from the environment. In humans, brain development prolongs from early in life to adolescence, when many connections between neurons, the cells of the brain, are actively remodelled. Any deviation from this very protracted program can result in neurodevelopmental disorders and, depending on specific timing, might lead to distinct pathology later in life.Neurodevelopmental disorders have a prominent genetic basis, although this does not necessarily mean that they are hereditary. For instance, many patients carry de novo mutations - an alteration in a gene that is present for the first time in one family member as a result of a mutation in a germ cell (egg or sperm) of one of the parents or in the fertilized egg itself. Recent advances in human genetics have identified specific mutations with these disorders. Unfortunately, we still do not understand how these mutations and concomitant environmental insults cause neurodevelopmental disorders. Our vision is to build a world-class Centre at King's College London with research programmes that will transform our understanding of the origin of neurodevelopmental disorders. To this end, we will investigate the biological mechanisms underlying these disorders in human patients and animal models. We will also train and nurture the next generation of scientific leaders in the field, equipped to dissolve the boundaries that exist between basic research and clinical disciplines.In the long term, we aim to translate the new knowledge into clinical advances that change the lives of affected individuals and their families, in collaboration with industrial partners, other research centres and patient associations.