[S-30] シンポジウム30

[S-30-6] GNEミオパチーへの新たな治療法開発　-経口シアル酸補充療法の枠組みを超えて-

吉岡 和香子, 西野 一三 (国立精神・神経医療研究センター病院 神経研究所疾病研究第一部)

Initially trained as a nephrologist after graduating from Tokyo Medical and Dental University in 2007. She started muscle disease research at Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP) in 2017 as a research scholar as she herself is a patient of GNE myopathy while being co-appointed as a genetic curator of nationwide patient registry for GNE myopathy in Japan. She has published papers on multidimensional analyses to elucidate the pathomechanism caused by the Japanese founder non-catalytic variant, and on nationwide survey to understand the extra-muscular manifestations and impact of pregnancy on disease progression. She is a recipient of World Muscle Society Best Oral Presentation Award in 2021 and Runner-up award in 2022. She is currently focusing on establishing a new therapy.