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In high income settings DNA-based diagnosis has transformed care pathways and led to gene-specific therapies. However, most affected families are in low-to-middle income countries (LMICs) with limited access to DNA-based diagnosis. Most (86%) published genetic data is derived from European ancestry. This marked genetic data inequality hampers understanding of genetic diversity and hinders accurate genetic diagnosis in all income settings. We developed a cloud-based transcontinental partnership to build diverse, deeply-phenotyped and genetically characterized cohorts to improve genetic architecture knowledge, and potentially advance diagnosis and clinical management.<\/jats:p>\n               <jats:p>We connected 18 centres in Brazil, India, South Africa, Turkey, Zambia, Netherlands and the UK. We co-developed a cloud-based data solution and trained 17 international neurology fellows in clinical genomic data interpretation. Single gene and whole exome data were analysed via a bespoke bioinformatics pipeline and reviewed alongside clinical and phenotypic data in global webinars to inform genetic outcome decisions.<\/jats:p>\n               <jats:p>We recruited 6001 participants in the first 43 months. Initial genetic analyses \u2018solved\u2019 or \u2018possibly solved\u2019 \u223c56% probands overall. In-depth genetic data review of the four commonest clinical categories (limb girdle muscular dystrophy, inherited peripheral neuropathies, congenital myopathy\/muscular dystrophies and Duchenne\/Becker muscular dystrophy) delivered a \u223c59% \u2018solved\u2019 and \u223c13% \u2018possibly solved\u2019 outcome. Almost 29% of disease causing variants were novel, increasing diverse pathogenic variant knowledge. Unsolved participants represent a new discovery cohort. The dataset provides a large resource from under-represented populations for genetic and translational research.<\/jats:p>\n               <jats:p>In conclusion, we established a remote transcontinental partnership to assess genetic architecture of NMDs across diverse populations. It supported DNA-based diagnosis, potentially enabling genetic counselling, care pathways and eligibility for gene-specific trials. Similar virtual partnerships could be adopted by other areas of global genomic neurological practice to reduce genetic data inequality and benefit patients globally.<\/jats:p>","DOI":"10.1093\/brain\/awad254","type":"journal-article","created":{"date-parts":[[2023,7,30]],"date-time":"2023-07-30T17:06:43Z","timestamp":1690736803000},"page":"5098-5109","source":"Crossref","is-referenced-by-count":30,"title":["Neuromuscular disease genetics in under-represented populations: increasing data diversity"],"prefix":"10.1093","volume":"146","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-9396-5893","authenticated-orcid":false,"given":"Lindsay A","family":"Wilson","sequence":"first","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0612-5819","authenticated-orcid":false,"given":"William L","family":"Macken","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luke D","family":"Perry","sequence":"additional","affiliation":[{"name":"Institute of Child Health and Centre for Neuromuscular Diseases, Neurosciences Unit, The Dubowitz Neuromuscular Centre, University College London, UCL Great Ormond Street, Great Ormond Street Hospital , London WC1N 3JH , UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, University College London , London WC1N 1EH , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9802-2683","authenticated-orcid":false,"given":"Christopher J","family":"Record","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8054-8954","authenticated-orcid":false,"given":"Katherine R","family":"Schon","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, University of Cambridge , Cambridge CB2 0QQ , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4325-3414","authenticated-orcid":false,"given":"Rodrigo S S","family":"Frezatti","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, School of Medicine of Ribeir\u00e3o Preto, University of S\u00e3o Paulo , S\u00e3o Paulo , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0951-5134","authenticated-orcid":false,"given":"Sharika","family":"Raga","sequence":"additional","affiliation":[{"name":"Neuroscience Institute, University of Cape Town , Cape Town , South Africa"},{"name":"Division of Paediatric Neurology, Department of Paediatrics and Child Health, Red Cross War Memorial Children\u2019s Hospital , Cape Town , South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2302-4901","authenticated-orcid":false,"given":"Kireshnee","family":"Naidu","sequence":"additional","affiliation":[{"name":"Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town , Cape Town , South Africa"},{"name":"Division of Neurology, Department of Medicine, Stellenbosch University , Cape Town , South 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