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

非洲罕见疾病倡议 (ARDI)：通过非洲罕见疾病研究推进基因组医学

• 批准号: 10674660
• 负责人: AIME LUMAKA ZOLA
• 金额: $ 62.73万
• 依托单位: CENTRE DE GENETIQUE HUMAINE
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-07-01 至 2028-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10674660
• 关键词: Advocacy; Affect; Africa; Africa South of the Sahara; African; Atlases; Awareness; Bioinformatics; Biological; Caring; ClinVar; Clinical; Collaborations; Communities; Community Medicine; Consultations; Counseling; Country; Data; Data Analyses; Data Collection; Databases; Democratic Republic of the Congo; Development; Diagnosis; Diagnostic; Disease; Epidemiology; Ethics; Evaluation; Family; Feedback; Frequencies; Genetic; Genetic Counseling; Genomic medicine; Genomics; Government; Health; Human; Human Genetics; Individual; Infrastructure; Institution; International; Internet; Knowledge; Link; Medical Records; Medicine; Modeling; Nomenclature; Paper; Patients; Pediatrics; Persons; Phenotype; Physicians; Policies; Population; Population Heterogeneity; Prevention; Procedures; Production; Protocols documentation; Public Domains; Publications; Rare Diseases; Registries; Research; Research Personnel; Research Project Grants; Resources; Running; Sampling; Scientist; Societies; Source; Students; Syndrome; Technology; Training; Translating; Translations; Transportation; United States National Institutes of Health; Universities; Variant; Visit; bioinformatics tool; clinical training; college; community engagement; computer infrastructure; computerized data processing; computing resources; data mining; data sharing; design; electronic registry; experience; genome analysis; genomic data; health record; improved; innovation; low and middle-income countries; malformation; meetings; mobile application; pediatrician; prevent; quality assurance; rare genetic disorder; research clinical testing; sample collection; screening; skills; tool; trend

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.

项目摘要 大约3.5-5.9%的世界人口可能受到罕见疾病的影响， 与刚果民主共和国（DRC）的379 - 639万人成比例。的 罕见疾病在不同国家或不同亚人群中的分布并不均匀。这种不均匀 分布情况表明，每个国家或区域应确定频率， 在其境内分发罕见疾病，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于推动发展非常重要 基因组医学在其他国家也是如此。非洲的数据在庞大的 大部分的数据库。由于发现的能力随着数据的增加而增加， 非洲数据的缺乏阻碍了在非洲的发现和诊断和 照顾罕见病患者。 此外，非洲国家，如刚果（金）， 势头不错。首先，非洲的基因组多样性更高。第二，技术 随着云的出现和生物信息学的部署， 云计算中的工具和其他资源。第三，移动的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，这是促进获得高计算 云计算中的资源，并消除对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 罕见疾病基因组学的专业知识在刚果民主共和国显着增加，导致多个 研究项目涉及基因组数据的分析正在进行的中心， 金沙萨大学的人类遗传学。 然而，低质量的数据会导致错误的政策。还需要作出努力， 网络，以提高数据的质量和数量。这就需要统一工具 以及数据收集和处理程序。 非洲罕见疾病倡议（ARDI）旨在成为撒哈拉以南非洲国家如何应对罕见疾病的模式。 非洲国家可能准备进入基因组医学时代， 对全球基因组医学的贡献。我们将利用所列的机会 以上一旦这个项目完成，第一个罕见病专家网络将在 在撒哈拉以南非洲国家有效，刚果患者将 诊断。非洲罕见病患者的首个移动的App和电子登记处将 在撒哈拉以南非洲国家实施。基因组数据分析的可行性 from Africa非洲in the Cloud云will be demonstrated演示at a broader更广泛scale规模.我们与 UDNI，ClinGen，FDNA，贝勒医学院和布罗德研究所将 为该项目生成的数据质量提供保证。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 出版物ClinVar、DECIPHER和人类畸形Syndrome蛋白图谱 为全球基因组医学界做出贡献。书记官处 将允许进行更多针对特定疾病的研究。 该项目开发的模型预计将由政府采用， 在面临类似挑战的国家复制。