Bioinformatics and Genomics Programme Pedro Rodríguez Cruz

29/04/202410:00PRBBBioinformatics and Genomics ProgrammePedro Rodríguez CruzCNAG-Centro Nacional de Análisis Genómico“Unravelling neurogenetic deseases in Senegal (and West Africa): contributions towards diversity, equity and inclusion in genetic research”Host: Benito Mestres, MartaAbstract:Abstract:
Neurogenetic diseases in sub-Saharan Africa are largely understudied, resulting in a significant knowledge gap. Human populations differ in the prevalence of common and rare genetic diseases. Therefore, the underrepresentation of ethnically-diverse populations in human genetic studies challenges our ability to understand the genetic architecture of diseases and holds us back from the promise of personalised medicine. Here, we explore the clinical and molecular landscape of rare neurological diseases in Senegal using deep phenotyping, clinical genomics and other omics technologies. We focus on the interpretation of genetic variants for clinical diagnosis and the identification of novel disease phenotypes. We use patient-based gene discoveries coupled with advances in bioinformatics and modelling to understand disease mechanisms, phenotypic variability, disease progression and response to therapy. Finally, we use population-based algorithms and large genomic datasets to understand how genetic variation influences the landscape of neurogenetic diseases that we see in the clinic.