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Shoji Ichikawa

Shoji Ichikawa

Senior Variant Assessment Scientist
Dr. Shoji Ichikawa is a Senior Variant Assessment Scientist at Ambry Genetics. He first became interested in human genetics while he was a high school student in Japan and pursued this interest throughout his career. Dr. Ichikawa holds a Ph.D. in Biochemistry from the University of Missouri. As a graduate student, he began his training in molecular genetics in the field of neurological disorders, including spinal muscular dystrophy and autism spectrum disorder.

Dr. Ichikawa then completed a postdoctoral fellowship and became an Assistant Research Professor at Indiana University School of Medicine. There he worked on genes associated with metabolic bone disorders. He participated in multiple NIH- and industry-funded projects as a principal investigator or co-investigator. His projects included identification of pathogenic variants in genetic bone diseases, genome-wide association studies of osteoporosis, and generation of mouse models of human genetic disorders.

In 2016, Dr. Ichikawa joined Ambry Genetics, where he employs his expertise in molecular genetics to assess pathogenicity of variants detected in clinical genetic tests. As a senior variant scientist, he also contributes to the development of variant classification schemes. In addition, Dr. Ichikawa is actively engaged in ClinGen work as a member of Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, Neurofibromatosis and Schwannomatosis Variant Curation Expert Panel, and RASopathy Gene/Variant Curation Expert Panel.