Cancer Genomics and Genomic Data Science for East Africa

项目摘要/摘要 自2001年公布人类基因组序列草案以来的20年，是真正意义上的变革 癌症研究领域的一个时代，标志着越来越重要的科学里程碑和稳定的 进度不断加快。专注于肿瘤综合特征的全球科学倡议 基因组--如癌症基因组图谱(TCGA)和全基因组的泛癌分析 (PCAWG)-正在从根本上改变我们预防、诊断和治疗癌症的方法。 令人惊讶的是，尽管TCGA和PCAWG都包括来自许多大洲的患者的肿瘤，但很少有肿瘤 来自非洲的数据也被纳入他们的分析中。此外，参与这两项研究的非洲科学家的数量 项目有限。TCGA和PCAWG分析的非洲肿瘤的匮乏和非洲肿瘤的匮乏 参与他们分析的科学家们令人担忧，因为世界79亿人口中有1.4%来自非洲 人类的许多基因变异只在非洲大陆发现。深沉的底蕴- 非洲基因组和肿瘤--以及非洲科学家--在癌症基因组学研究中的代表性是 这归因于许多因素，但非洲缺乏必要的基因组研究基础设施，而且 在基因组数据的生成和分析方面接受过培训的非洲基因组专业人员数量 是主要的贡献者。为了确保癌症基因组学最新进展的变革性好处 非洲将实现癌症的预防、诊断和治疗，必须采取专门的举措 以增加非洲训练有素的基因组专业人员的数量。在此应用程序中，弗雷德·哈钦森 华盛顿州西雅图的癌症研究中心和乌干达坎帕拉的乌干达癌症研究所-两位总理 自2004年以来一直合作进行癌症研究并提高能力的机构 乌干达和东非的高质量癌症研究、培训和临床护理-建议扩大他们的 已建立合作，以解决非洲基因组学专业人员严重短缺的问题 癌症基因组数据的产生和分析。我们假设，改善非洲的供应 既能产生可重复的高质量癌症基因组数据又能分析这些数据的专业人员 将严格和全面地加快非洲癌症基因组学社区的发展 并确保癌症基因组学革命的进步将最大限度地造福非洲癌症患者。 在5年内，并与卫生学院传染病研究所合作 科学、Makerere大学、弗雷德·哈奇和UCI将支持4名乌干达或东非人 将完成硕士学位，2人将完成生物信息学博士学位，重点是 癌症基因组学和基因组数据科学。我们预计，该项目的毕业生将成为 乌干达和东非癌症基因组学社区的领导人。

PROJECT SUMMARY/ABSTRACT The 20 years since publication of the draft human genome sequence in 2001 have been a truly transformational era in the field of cancer research marked by ever more significant scientific milestones and a steadily accelerating rate of progress. Global scientific initiatives focused on comprehensive characterization of tumor genomes – such as The Cancer Genome Atlas (TCGA) and the Pan-Cancer Analysis of Whole Genomes (PCAWG) – are radically transforming our approach to the prevention, diagnosis, and treatment of cancer. Surprisingly, although both TCGA and PCAWG included tumors from patients on many continents, few tumors from Africa were included in their analyses. Moreover, the number of African scientists involved in the two projects was limited. The paucity of African tumors analyzed by TCGA and PCAWG, and the dearth of African scientists involved in their analysis, is concerning given that Africa is home to 1.4 of the world’s 7.9 billion inhabitants, and much of human genetic variation is found only on the African continent. The profound under- representation of African genomes and tumors – and of African scientists – in cancer genomics studies is attributable to many factors, but the lack of requisite infrastructure for genomic research in Africa and the limited number of genomics professionals in Africa who are trained in both the generation and analysis of genomic data are major contributors. To ensure that the transformative benefits of recent advances in cancer genomics to the prevention, diagnosis, and treatment of cancer will be realized in Africa, dedicated initiatives must be undertaken to increase the number of trained genomics professionals in Africa. In this application, the Fred Hutchinson Cancer Research Center in Seattle, WA and the Uganda Cancer Institute in Kampala, Uganda – two premier institutions that have been collaborating since 2004 to conduct cancer research and to increase the capacity for high-quality cancer research, training, and clinical care in Uganda and East Africa – propose to extend their well- established collaboration to address the critical shortage of African genomics professionals who are trained in the generation and the analysis of cancer genomic data. We hypothesize that improving the supply of African professionals who can both generate cancer genomic data of reproducibly high quality and analyze those data rigorously and comprehensively will accelerate the development of an Africa-based cancer genomics community and ensure that the advances of the cancer genomics revolution will maximally benefit African cancer patients. Over a period of 5 years, and in conjunction with the Infectious Diseases Institute of the College of Health Sciences, Makerere University, the Fred Hutch and UCI will support 4 Ugandan or East African individuals who will complete master’s degrees, and 2 who will complete doctoral degrees, in Bioinformatics with a focus on cancer genomics and genomic data science. We anticipate that graduates of the program will become the leaders of the cancer genomics community in Uganda and East Africa.