DGEMBE: Developing GEnomic Medicine BEtween Africa and the UK

在西方世界，新的基因组技术正在革新对罕见疾病患者的护理，使患者能够进行更大规模的分子诊断，并为风险分层和有效的分子驱动疗法指明了新方法。然而，非洲大陆有可能在这场革命中落在后面。事实上，由于缺乏基因组技术，尤其是缺乏在非洲的研究和临床环境中有效利用这些技术的人力资本，现有的保健不平等现象可能会进一步恶化。该项目将利用其合作伙伴的优势，通过发展一支致力于在非洲实施基因组医学并经过适当培训的国际学员队伍来应对这种风险。合作伙伴是南半球领先的医学研究机构之一开普敦大学；曼彻斯特大学是罕见病研究和基因组医学的领先中心。我们将制定一个有凝聚力的工作计划，涉及基础科学和临床学术首席研究员；心脏病学、临床遗传学、听力学、眼科和皮肤科的临床医生；卫生服务临床科学家和遗传咨询师。这将作为其中心目标，提供10个互惠的博士生交流，目的是在南非和英国患者中发现新的遗传发现，探索获得的知识的临床益处途径，并为长期的南/北合作奠定基础。该项目的学生将发展国际联系，这将有助于他们的职业发展，并通过研究互动和知识转移，为促进非洲的社会和经济发展做出持久的承诺。除了学生交流之外，PI之间的年度会议以及PI与PI之间更长的访问将有助于在这一领域发展重要的战略伙伴关系，从而为国际政府、慈善机构和工业界提供资金。特别值得注意的是，我们将研究的疾病包括风湿性心脏病（RHD）和围产期心肌病（PPCM），在这些疾病中，UCT临床研究人员享有世界领先的声誉，而UoM研究人员拥有高度互补的分子和遗传学专业知识。这些都是被忽视的贫困疾病，虽然在英国很少见，但对撒哈拉以南非洲的人口健康产生了严重影响。除了对这些疾病的科学发现预期会给患者带来好处之外，该方案还将提高他们在研究努力方面的形象，并说明合作方法的实用性和生产力。这将成为今后在这些疾病和其他类似被忽视疾病方面建立伙伴关系的灯塔。在UCT与国际领袖一起学习的英国学生将对他们在其他情况下很少遇到的疾病有深刻的理解，并在与英国不同的社会背景下获得基因组医学的认识；这些将是他们未来职业生涯中非常宝贵的经验。

Novel genomic technologies are in the process of revolutionising care for patients with rare diseases in the Western world, enabling a greater scale of molecular diagnoses among affected people and pointing the way to new approaches to risk stratification and effective molecularly driven therapies. Nevertheless, there is a risk that the African continent may be left behind in this revolution. Indeed, existing health inequalities may be worsened through lack of availability of genomic technologies and, critically, the human capital to use them effectively in both the research and clinical settings in Africa. This project will utilise the strengths of its partners to counter that risk by developing an international cadre of trainees committed and appropriately trained to implement genomic medicine in the African context. The partners are The University of Cape Town, one of the Southern hemisphere's leading medical research institutions; and The University of Manchester, a leading centre for rare disease research and genomic medicine. We will develop a cohesive programme of work involving basic science and clinical academic Principal Investigators; clinicians in cardiology, clinical genetics, audiology, ophthalmology and dermatology; health service clinical scientists, and genetic counsellors. This will as its central goal deliver ten reciprocal PhD student exchanges with the aims of making new genetic discoveries in both South African and UK patients, exploring the pathways to clinical benefit of the knowledge obtained, and laying the foundations for long-lasting South/North collaborations. Students in the programme will develop international links that will be of use in furthering their careers, and develop lasting commitments to promoting social and economic development in Africa through research interactions and knowledge transfer. In addition to the student exchanges, annual meetings between PI's, and longer PI-to-PI visits, will enable the development of major strategic partnerships in this area competitive for international governmental, philanthropic and industrial funding.Of particular note, the diseases we will study include Rheumatic Heart Disease (RHD) and Peripartum Cardiomyopathy (PPCM), conditions where UCT clinical investigators have world-leading reputations and UoM investigators have highly complementary molecular and genetics expertise. These are neglected diseases of poverty which although rare in the UK have heavy impacts on population health in sub-saharan Africa. In addition to the patient benefits expected to flow from scientific discoveries made about these conditions, this programme will increase their profile with regard to research endeavour, and illustrate the practicality and productivity of a collaborative approach. This will be a beacon for future partnerships in these and other similarly neglected diseases. UK students studying with international leaders at UCT will develop deep understanding of conditions they would only rarely otherwise encounter, and gain an awareness of genomic medicine in a social context different from the UK; these will be highly valuable experiences in their future careers.