NGS first approach for diagnosis of rare genetic diseaess
This is your Project description. Provide a brief summary to help visitors understand the context and background of your work. Click on "Edit Text" or double click on the text box to start. are interested in identifying genomic differences across populations that may be relevant to Mendelian disease susceptibility
Population genomics of neuromuscular diseases (NMDs)
Some neuromuscular diseases that are relatively common in Europeans are rare or unreported in sub-Saharan Africa. We are interested in the study of specific genetic loci across populations for the identification of genomic signatures that may be relevant to Mendelian disease susceptibility. We focus on NMDS and gene duplications, triplet expansion disorders and other structural rearrangements.
Despite being the most common form of muscular dystrophy among children, our knowledge of Duchenne muscular dystrophy in sub-Saharan Africa is extremely sparse. The West Africa Dystrophynopathy Study (WADYSS) aims to characterize the spectrum of DMD mutations in West African patients, identify the clinical peculiarities in this geographic area, as well as to pave the way for future clinical trials in the region.
Gene discovery program for rare NMDS and neurogenetic diseases
Despite advances in genomics, many patients with rare genetic disorders remain undiagnosed. Patient-based genetic discovery provides the opportunity to use advances in bioinformatics and disease modelling to understand molecular mechanisms of disease and have a significant impact on clinical care and therapeutics.
Integrating multiomics for precision medicine in NMDs
We want to understand the impact of the combination of genomics and proteomics in the diagnosis and characterization of new disease genes in neuromuscular diseases. A significant proportion of muscle proteins can be detected in white blood cells and, in the future, this could also serve as an alternative to muscle biopsy, which is not available in Senegal. More info available at NMD-GPS website.
Spinal muscular atrophy (SMA) is one of the most common severe inherited diseases of infancy and early childhood in populations of European and Asian descent. However, it is believed to be rare in sub-Saharan Africa, partly due to differences in carrier frequency between populations. The aim of SMA-Senegal is to understand the incidence and epidemiology of SMA in Senegal, as well as to characterize its molecular basis and carrier frequencies.