Irene De Biase, MD, PhD, FACMG

Professor (Clinical), University of Utah School of Medicine

Education

• Doctorate Degree—Cellular and Molecular Genetics, Frederico II University
• Medical Degree—Medicine and Surgery, Frederico II University
• Fellowship—Clinical Biochemical Genetics, Greenwood Genetics Center
• Postdoctoral Fellow—Department of Biochemistry and Molecular Biology, University of Oklahoma Health Sciences Center

Certification/Affiliations

• American Board of Medical Genetics and Genomics
• Society for Inherited Metabolic Disorders
• American College of Medical Genetics and Genomics

Awards

• 2024—ADLM Academy’s Distinguished Abstract Awards
• 2024—ADLM Pediatric Maternal Fetal Medicine division Best Abstract Award
• 2024—ADLM Nutrition Division Abstract Award, Runner up
• 2023—AACC Nutrition Division Best Abstract Award
• 2022—AACC Academy’s Distinguished Abstract Awards
• 2022—AACC Nutrition Division Best Abstract Award
• 2021—AACC Lipoproteins and Vascular Diseases division Outstanding Abstract Award
• 2021—AACC Pediatric Maternal Fetal Medicine division Best Abstract Award
• 2020—AACC Academy’s Distinguished Abstract Awards
• 2019—AACC Nutrition Division Abstract Award, Runner up
• 2017—Artery Ambassador Challenge Winner (awarded in support of travelling to the 69th AACC Annual Scientific Meeting & Clinical Lab Expo)
• 2011—SERGG Student Travel Award
• 2010—SERGG Student Travel Award
• 2010—SIMD Student Travel Award
• 2006 - 2007—National Ataxia Foundation postdoctoral fellowship

Research Interests

• Lysosomal storage disorders
• Peroxisomal disorders

Recent Publications

• Prinzi J, Pasquali M, Hobert JA, et al. Diagnosing X-Linked adrenoleukodystrophy after implementation of newborn screening: a reference laboratory perspective. Int J Neonatal Screen. 2023;9(4):64.
• Yuzyuk T, McDonald CM, Zuromski LM, et al. Improvement of lipid and lipoprotein profiles in children and adolescents with cystic fibrosis on CFTR modulator therapy. J Cyst Fibros. 2023;22(6):1027-1035.
• De Biase I, Yuzyuk T, Cui W, et al. Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders. Clin Chim Acta. 2023;542:117295.