第64回日本神経学会学術大会

講演情報

シンポジウム

[S-30] シンポジウム30

2023年6月2日(金) 13:45 〜 15:45 第03会場 (幕張メッセ国際会議場 2F 201)

座長:森 まどか(国立精神・神経医療研究センター脳神経内科),鈴木 直輝(東北大学病院脳神経内科)

後援:日本筋学会

[S-30-4] N-acetylmannosamine (ManNAc) in GNE myopathy: clinical trials and future prospects

May Christine V. Malicdan1,2 (1.National Institute of Health Undiagnosed Diseases Program, 2.Medical Genetics Branch, National Human Genome Research Institute)

photo
Dr. May Christine Malicdan completed her training in Neurology and Psychiatry in the University of Santo Tomas, Manila, Philippines. She then joined the laboratory of Dr. Ichizo Nishino at the Department of Neuromuscular Research in the National Center for Neurology and Psychiatry. In Dr. Nishino’s laboratory, she found her unwavering interest in medical and translational research. With a joint partnership program between Dr. Nishino’s laboratory and the University of Kyoto, she obtained her PhD in Neuroscience. Her work revolved on GNE myopathy, where she published pioneering work on preclinical trials using sialic acid. With a deep yearning for translational medicine, Dr. Malicdan moved to the US and joined the laboratory of Dr. William Gahl at the National Human Genome Research Institute of the National Institutes of Health as a visiting postdoctoral fellow and was trained in human genetics and bioinformatics. She then became a staff scientist, and, with a combined expertise in molecular and cellular biology, bioinformatics and genomics, lead research teams to achieve break-through discoveries in genetics, genomics and translational research. Dr. Malicdan is currently an Associate Investigator in the Medical Branch of NHGRI, and continues to define molecular basis of rare genetic disorders, specifically those that involve lysosomes.

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