Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America DOI Creative Commons
Emma Rybalka, Hyung Jun Park, Atchayaram Nalini

et al.

Orphanet Journal of Rare Diseases, Journal Year: 2024, Volume and Issue: 19(1)

Published: Nov. 26, 2024

The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held June 3, 2024, at the National Institutes of Health (NIH) Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 is an ultra-rare, inherited neuromuscular disease. Features geographical patient clusters South Korea, Japan, India United States America were characterised discussed. Pre-clinical animal cell-based models discussed, providing unique insight into disease pathogenesis. biochemical pathogenesis potential therapeutic targets identified. Potential clinical pre-clinical biomarkers An consortium established a roadmap development created.

Language: Английский

Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy – meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of America DOI Creative Commons
Emma Rybalka, Hyung Jun Park, Atchayaram Nalini

et al.

Orphanet Journal of Rare Diseases, Journal Year: 2024, Volume and Issue: 19(1)

Published: Nov. 26, 2024

The inaugural Clinical and Scientific Conference on Adenylosuccinate Synthetase 1 (ADSS1) myopathy was held June 3, 2024, at the National Institutes of Health (NIH) Center for Advancing Translational Sciences (NCATS) in Rockville, Maryland, USA. ADSS1 is an ultra-rare, inherited neuromuscular disease. Features geographical patient clusters South Korea, Japan, India United States America were characterised discussed. Pre-clinical animal cell-based models discussed, providing unique insight into disease pathogenesis. biochemical pathogenesis potential therapeutic targets identified. Potential clinical pre-clinical biomarkers An consortium established a roadmap development created.

Language: Английский

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