(Last updated : 2024-05-16 14:58:38)
  Saito Kayoko
   Department   School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine  
   Position   Professor (Fixed Term)
■ Published papers
1. Original article  Real-world outcomes in patients with spinal muscular atrophy treated with onasemnogene abeparvovec monotherapy: Findings from the RESTORE registry. 2024/03/05
2. Original article  Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. 2024/02
3. Original article  Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. 2023/09
4. Original article  CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. 2023/07
5. Original article  A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. 2023/06
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■ Academic conference presentation
1. Results of comprehensive genomic profiling tests for pancreaticobiliary cancer at our university’s hospital  2023/03/18
2. A case with Fabry disease who was diagnosed through routine health check-up by the detection of mulberry bodies in urinary sediment was led to the genetic counseling  2020/11/18
3. Whole exome sequencing for clinically suspected MODY in Japanese  2020/11/18
4. From the Principal Investigator's Perspective-Focusing on Clinical Trials in Spinal Muscular Atrophy  2020/02/05
5. Feeding difficulties and gastrointestinal symptoms in patients with spinal muscular atrophy type 2 in Japan  2019/09/20
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■ Social activities
1. 2020/08 「患者さん・家族と考える、最適な脊髄性筋萎縮症治療」第62回日本小児神経学会学術集会共催シンポジウム座長
■ Committee memberships
1. 2020/06/16~2022/06 Association for the Promotion of Research Integrity Link
■ Research areas
Medical biochemistry, Embryonic medicine and pediatrics, Neurology 
■ Awards & honors
1. 2022/12 Japan Society of Human Genetics The Contribution Award of the Japan Society of Human Genetics Link
■ Academic society memberships
1. Japan Pediatric Society
2. Japan Society for Medical Education
3. Japanese Society for Genetic Counseling
4. The Japan Society of Human Genetics
5. The Japan Society of Pediatric Genetics
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■ Education
1. 1976/04~1980/03 〔Doctoral course〕 Pediatrics, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,
■ Academic & professional experience
1. 2017/12~ Tokyo Women's Medical University Institute of Medical Genetics Professor of Special Appointment
2. 2017/12~2020/07 Tokyo Women's Medical University Institute of Clinical Genomics Director in General
3. 2017/04~ Professor Emeritus
4. 2016/05~ Vice President
5. 2004/05~ Tokyo Women's Medical University Institute of Medical Genetics Director in General
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