DGEMBE: Developing GEnomic Medicine BEtween Africa and the UK

DGEMBE：在非洲和英国之间开发基因组医学

• 批准号: ES/N01393X/1
• 负责人: Bernard Keavney
• 金额: $ 21.03万
• 依托单位: University of Manchester
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2015
• 资助国家: 英国
• 起止时间: 2015 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=ES%2FN01393X%2F1
• 关键词: DGEMBE; Developing; GEnomic; Medicine; BEtween

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.

新的基因组技术正在为西方世界罕见病患者的护理带来革命性的变化，使受影响人群的分子诊断规模更大，并为风险分层和有效分子驱动疗法的新方法指明了方向。尽管如此，非洲大陆仍存在在这场革命中落后的风险。事实上，由于缺乏基因组技术，而且关键是缺乏在非洲研究和临床环境中有效利用这些技术的人力资本，现有的健康不平等可能会恶化。该项目将利用其合作伙伴的优势，通过培养一批致力于在非洲实施基因组医学并接受适当培训的国际受训人员来应对这一风险。合作伙伴是南半球领先的医学研究机构之一的开普敦大学和罕见疾病研究和基因组医学的领先中心曼彻斯特大学。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，眼科学和皮肤病学的临床医生;卫生服务临床科学家和遗传顾问。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学发现，探索获得知识的临床益处的途径，并为长期的南/北合作奠定基础。该计划的学生将发展国际联系，这将有助于促进他们的职业生涯，并通过研究互动和知识转让，发展促进非洲社会和经济发展的持久承诺。除了学生交流，PI之间的年度会议，以及PI对PI的长期访问，将使该领域的主要战略伙伴关系的发展成为国际政府，慈善机构和工业资金的竞争对手。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），UCT临床研究者拥有世界领先的声誉，UoM研究者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地区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的好处外，该方案还将提高他们在研究工作方面的形象，并说明合作方法的实用性和生产力。这将成为今后在这些和其他类似被忽视的疾病方面建立伙伴关系的灯塔。在UCT与国际领导人一起学习的英国学生将深入了解他们很少遇到的情况，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。

项目成果

Acquired heart disease in low-income and middle-income countries

• DOI: 10.1136/archdischild-2016-312521
• 发表时间: 2018-01-01
• 期刊: ARCHIVES OF DISEASE IN CHILDHOOD
• 影响因子: 5.2
• 作者: Curry, Chris;Zuhlke, Liesl;Kennedy, Neil
• 通讯作者: Kennedy, Neil

PROTEA, A Southern African Multicenter Congenital Heart Disease Registry and Biorepository: Rationale, Design, and Initial Results.

• DOI: 10.3389/fped.2021.763060
• 发表时间: 2021
• 期刊: Frontiers in pediatrics
• 影响因子: 2.6
• 作者: Aldersley T;Lawrenson J;Human P;Shaboodien G;Cupido B;Comitis G;De Decker R;Fourie B;Swanson L;Joachim A;Magadla P;Ngoepe M;Swanson L;Revell A;Ramesar R;Brooks A;Saacks N;De Koning B;Sliwa K;Anthony J;Osman A;Keavney B;Zühlke L
• 通讯作者: Zühlke L