LRHG - Lecture 23: African Rare Diseases Initiative: Advancing Genomic Medicine through Rare Diseases Research in Africa

February 28, 2024

The 23rd lecture from the Logical Reasoning in Human Genetics featured our first guest speaker from Central Africa. Dr. Aimé Lumaka, Professor of Genetics and Pediatrics at Université de Kinshasa, Democratic Republic of the Congo, and Chair of the African Rare Diseases Initiative (ARDI), guided us through essential insights and initiatives aimed at advancing genomic medicine through rare diseases research in Africa.

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. In addition, clinical presentation of the same syndrome may be influenced by ethnic background and vary from one ethnic group to another. This uneven distribution and influence of ethnicity suggest that each country or region should determine the frequency, distribution, and clinical profile of rare diseases within its borders and develop a prevention, screening, management, and advocacy plan.

During his lecture, Dr. Lumaka emphasized the critical role of data in advancing genomic medicine, particularly noting the insufficiency of data volume and quality from Africa. To address this challenge, the ARDI initiative has outlined three primary objectives. Firstly, it aims to establish the first Rare Diseases collaborative network in Africa, thereby developing the necessary infrastructure for genomic research on rare diseases across the continent. Secondly, it seeks to enhance rare diseases genomics expertise in Africa through comprehensive training programs and educational opportunities designed for healthcare professionals and researchers. Lastly, the initiative plans to investigate the underlying causes of rare diseases by studying 300 probands recruited in the Democratic Republic of the Congo (DRC). 

Watch the recording here to learn more about the achievements of this groundbreaking initiative.