African Rare Diseases Initiative (ARDI): Advancing Genomic Medicine through rare diseases research in Africa

项目总结 大约3.5-5.9%的世界人口可能会受到一种罕见疾病的影响，相应的 刚果民主共和国的人口比例为379-639万人。这个 罕见疾病在不同国家或亚群中的分布并不一致。这种不均衡 分布建议每个国家或地区应确定频率和 在其境内传播罕见疾病，并制定预防、筛查、 管理和宣传计划。 有趣的是，一个国家或地区产生的知识对进步非常重要。 其他国家的基因组医学也是如此。非洲的数据在很大程度上被低估了 多数信誉良好的数据库。由于发现的能力随着数据的增加而增加， 这种非洲数据的匮乏阻碍了在非洲的发现和诊断和诊断的改进 关爱罕见病患者。 此外，刚果民主共和国(DRC)等非洲国家正处于非常艰难的时期 势头不错。首先，非洲的基因组多样性更高。第二，技术上的 随着云的出现和生物信息学的部署，障碍正在被打破 云中的工具和其他资源。第三，移动互联网得到广泛部署 在刚果民主共和国和其他撒哈拉以南国家，这正在促进获得高计算 云中的资源，不再需要繁重的本地基础架构或高级 生物信息学家在撒哈拉以南国家进行生物信息学分析。最后， 在刚果民主共和国，罕见疾病基因组学的专业知识显著增加，导致 涉及基因组数据分析的研究项目正在该中心进行 金沙萨大学的人类遗传学。 然而，质量不佳的数据会导致错误的政策。在建设方面仍需作出努力 网络，以提高数据质量和数据量。这需要协调各种工具 以及数据收集和处理的程序。 非洲罕见病倡议(ARDI)旨在成为撒哈拉以南地区 非洲国家可能准备进入基因组医学时代，并取得重大进展 对全球基因组医学的贡献。我们将充分利用所列出的机会 上面。一旦这个项目完成，第一个罕见疾病专家网络将是 在撒哈拉以南非洲国家有效，刚果患者将 诊断出来了。首个非洲罕见病患者移动应用和电子登记将 将在一个撒哈拉以南非洲国家实施。基因组数据分析的可行性 来自非洲的云端将在更大范围内进行演示。我们与 UDNI、Clingen、FDNA、贝勒医学院和布罗德研究所将 对本项目中生成的数据的质量提供保证。在科学方面， 将揭示非洲罕见疾病的流行病学和潜在遗传学。我们将使用 《人类畸形综合征图集》的发表、ClinVar、Decpher和《图集》 不同的人群为全球基因组医学界做出贡献。注册处 将允许进行更多针对疾病的研究。 在这个项目中开发的模型预计将被政府采用并被 在面临类似挑战的国家也是如此。

PROJECT SUMMARY About 3.5–5.9% of the world population could be affected by a rare disease, corresponding proportionally to 3.79–6.39 million people in the Democratic Republic of Congo (DRC). The distribution of rare diseases is not uniform across countries or sub-populations. This uneven distribution suggests that each country or region should determine the frequency and distribution rare diseases within its borders and develop a prevention, screening, management, and advocacy plan. Interestingly, knowledge generated in one country or region is highly important in advancing genomic medicine in other countries as well. African data are underrepresented in the vast majority of reputable databases. Since the ability to make discoveries increases with data, this paucity of African data prevents discoveries in Africa and improvement of diagnostic and care for rare diseases patients. Besides, African countries such as the Democratic Republic of Congo (DRC) are in a very good momentum. First, the genomic diversity is higher in Africa. Second, the technological barriers are being broken with the advent of the Cloud and the deployment of bioinformatics tools and other resources in the Cloud. Third, the mobile internet has been broadly deployed in the DRC and other Sub-Saharan countries, which is facilitating access to high computing resources in the Cloud and removing the need for heavy local infrastructure or senior bioinformaticians to conduct bioinformatics analysis in Sub-Saharan countries. Finally, the expertise for rare diseases genomics has increased significantly in DRC, leading to multiple research projects involving the analysis of genomic data being performed in the center for human genetics of the University of Kinshasa. However, poor quality data leads to wrong policies. An effort still needs to be made in building networks to increase the quality and volume of data. This requires the harmonization of tools and procedures for data collection and processing. The African Rare Diseases Initiative (ARDI) is designed to be a model of how a Sub-Saharan African country may become ready to enter the genomic medicine era and make significant contributions to global genomic medicine. We will take advantage of the opportunities listed above. Once this project is completed, the first expert network for rare diseases will be effective in a Sub-Saharan African country and Congolese patients will have been diagnosed. The first mobile App and electronic registry of African rare disease patients will be implemented in a Sub-Saharan African country. The feasibility of analysis of genomic data from Africa in the Cloud will be demonstrated at a broader scale. Our collaborations with the UDNI, the ClinGen, the FDNA, the Baylor College of Medicine, and the Broad Institute will offer assurance of the quality of data generated in this project. On the scientific front, the epidemiology and underlying genetics of rare diseases in Africa will be revealed. We will use the publications, ClinVar, DECIPHER and the Atlas of Human Malformation Syndromes in diverse populations to contribute to the global genomic medicine community. The registry will allow more disease-specific research to be conducted. The model developed in this project is expected to be taken up by the government and be replicated in countries with similar challenges.