Mari Mori

The Ohio State University · company speakers →

My overall research goal is to explore the pathophysiology to enable specific therapies for metabolic genetic conditions to improve to improve the lives of the patients. I was awarded the 2015 Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars scholarship and 2014-2015 Lysosomal Disease Network Fellowship to perform a research on phenotype prediction of Pompe disease. Through the Certificate Training course in Rare Disease Research, I learned unique issues of conducted research on rare diseases. I was awarded with The William and Mary Oh-William and Elsa Zopfi Pediatrics for Perinatal Reseach Award and Advance-CTR 2017 Pilot Projects Program Award to explore potential modifier gene pathways that may alter the immunological response to synthetic enzyme replacement in patients with Pompe disease. I direct a Medical Biochemical Genetics fellowship at Nationwide Children's Hospital. Current research interests include improving newborn screening for muscular dystrophy (CK-MB cut-off) and identifying inborn errors of metabolism due to a repeat expansion using genome sequencing data. <br><br>

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