Silvia Tortorelli

Silvia Tortorelli, MD, PhD is a researcher at the Department of Laboratory Medicine and Pathology at Mayo Clinic in Rochester, Minnesota. With a dual MD/PhD background, her work focuses on neonatal metabolic screening, lysosomal storage disorders, and peroxisomal disease diagnostics.

• 2000 PhD in Developmental Neurology (Universita di Siena)
• 2004 Clinical Biochemical Genetics Fellowship (Mayo Clinic)
• 1990 MD (Universita di Genova)

Her research spans genetic disorder diagnostics, metabolic disease monitoring, and porphyria biochemistry. Key publications include:

• 2023: Plasmalogen analysis methods
• 2021: Porphyria diagnosis guidelines
• 2020: Tyrosinemia monitoring protocols

Scientific recognitions:

• 2016 SSIEM Poster Award
• 2004 SSIEM Travel Scholarship
• 1996 Augusta Alabastro Award

Active in medical genetics committees including:

• 2023-present: MPS Delphi Panel
• 2022-2024: NC MPS II Pilot Study Panel
• 2018-2021: CLSI Standards Development