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.

项目概要 大约 3.5-5.9% 的世界人口可能受到罕见疾病的影响，相应的 刚果民主共和国 (DRC) 人口为 3.79-639 万人。 罕见疾病在不同国家或亚人群中的分布并不均匀。 分布表明每个国家或地区应确定频率和 在其境内分发罕见疾病并制定预防、筛查、 管理和宣传计划。 暗示性的是，一个国家或地区产生的知识对于推动进步非常重要 其他国家的基因组医学数据在大量数据中也没有得到充分体现。 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非洲的发现以及诊断和治疗的改进 关爱罕见病患者。 此外，刚果民主共和国（DRC）等非洲国家也面临着非常严峻的形势。 首先，非洲的基因组多样性更高，其次是技术。 随着云的出现和生物信息学的部署，障碍正在被打破 三是移动互联网广泛部署。 在刚果民主共和国和其他撒哈拉以南非洲国家，这正在促进获得高计算能力 云中的资源，消除了对繁重的本地基础设施或高级基础设施的需求 最后，生物信息学家在撒哈拉以南非洲国家进行生物信息学分析。 刚果民主共和国的罕见疾病基因组学专业知识显着增加，导致多个 涉及基因组数据分析的研究项目正在该中心进行 金沙萨大学人类遗传学。 然而，低质量的数据会导致错误的政策，但仍需要在建设方面做出努力。 网络以提高数据质量和数量，这需要工具的协调一致。 以及数据收集和处理的程序。 非洲罕见疾病倡议 (ARDI) 旨在成为撒哈拉以南非洲地区如何应对罕见疾病的典范。 非洲国家可能已准备好进入基因组医学时代并取得重大进展 我们将利用列出的机会为全球基因组医学做出贡献。 一旦该项目完成，第一个罕见疾病专家网络将建成。 在撒哈拉以南非洲国家有效，刚果患者将 非洲罕见病患者的第一个移动应用程序和电子登记系统将被诊断出来。 在撒哈拉以南非洲国家实施基因组数据分析的可行性。 来自非洲的云将在更广泛的范围内展示我们与 UDNI、ClinGen、FDNA、贝勒医学院和布罗德研究所将 在科学方面，保证了该项目生成的数据的质量。 我们将揭示非洲罕见疾病的流行病学和潜在遗传学。 出版物《ClinVar》、《DECIPHER》和《人类畸形综合症图谱》 不同人群为全球基因组医学界做出贡献。 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被政府采用并被采用 在面临类似挑战的国家也进行了复制。