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

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. 

The LRHG series is in partnership with Institut Pasteur de Tunis - معهد باستور تونس. You can join us every first Wednesday of the month for a new and enlightening lecture ?‍?

More information on the course and recordings of the previous lectures can be found here.

• Lecture 22 - Lessons to Remember from Lactase Deficiency - Lactase Persistance Projects

• Lecture 21 - The Importance of Checking Data & Results

• Lecture 20 - Cultural Perspectives on Autism Spectrum Disorder in Africa 

• Lecture 19 - The Monogenic Architecture of Retinal and Neurological Diseases

• Lecture 18 - Variability in Biological Systems: Study of 24-h Blood Pressure Monitoring

• Lecture 17 - Exploring the oral microbiota by metagenomics approach: from Bacteria to Archaea

• Lecture 16 - A multi-disciplinary examination of Alzheimer Disease in extreme samples

• Lecture 15 - Novel genomic variants and genetic factors involved in Disorders of Sexual Development

• Lecture 14: Simple Traits by Ken Weiss

• Lecture 13: Introductory class and the latest research in Human Genetics

• Lecture 12 - Systems Genetics of Human Functional Variation

• Lecture 11 - The Ins and Outs of Sustaining Longitudinal Cohort for Genetic Studies

• Lecture 10 - CNVs detection from exome sequencing data