Community of Practice: Bioinformatics for Rare Diseases
The Bioinformatics for Rare Diseases CoP will bring together clinicians, genetic counsellors, laboratory scientists, bioinformaticians, and researchers to address the unmet needs of patients with rare diseases in Africa. The group will focus on building a skilled workforce, improving diagnosis through African-specific training and AI tools, expanding access to genomic sequencing, and strengthening local data infrastructure. By fostering cross-sector collaboration and contributing African genomic data to global initiatives, the CoP aims to deliver timely diagnoses, locally relevant solutions, and ensure African patients are meaningfully represented in the global rare diseases research landscape.