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Article Abstract
The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held on June 3, 2024, at the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 myopathy is an ultra-rare, inherited neuromuscular disease. Features of geographical patient clusters in South Korea, Japan, India and the United States of America were characterised and discussed. Pre-clinical animal and cell-based models were discussed, providing unique insight into disease pathogenesis. The biochemical pathogenesis was discussed, and potential therapeutic targets identified. Potential clinical and pre-clinical biomarkers were discussed. An ADSS1 myopathy consortium was established and a roadmap for therapeutic development created.
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| http://dx.doi.org/10.1186/s13023-024-03429-x | DOI Listing |
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Article Synopsis
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- The conference highlighted geographical patient clusters from South Korea, Japan, India, and the USA, along with research on pre-clinical models to better understand the disease.
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