Departmentsالطب المختبري وعلم الأمراضLocationRochester, MinnesotaLanguagesEnglishExisting patientsSend a secure message via patient portal Mayo Clinic locations Rochester, Minnesota Driving directions More info Billing & insurance Accessibility services Education2004ResidentClinical Biochemical Genetics, Programs in Rochester, Mayo School of Graduate Medical Education, Mayo Clinic College of Medicine2004Fellow - Clinical Biochemical GeneticsMayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic College of Medicine and Science2000PhD - Research Doctor of Developmental NeurologySchool of Medicine, Universita di Siena1996FellowDepartment of Pediatric Neurology and Psychiatry, Gaslini Institute, Universita di Genova1995ResidentDepartment of Pediatric Neurology and Psychiatry, Universita di Genova1990MDSchool of Medicine, Universita di Genova1989InternshipDepartment of Pediatric Neurology and Psychiatry, Universita di GenovaShow more education Activities and honorsCertifications2005Clinical Biochemical GeneticsAmerican Board of Medical Genetics and GenomicsAwards and honors2016SSIEM 2016 Annual Symposium Poster AwardAwarding Organization2014Paper Newborn Screening for X-Linked Adrenoleukodystrophy: A pilot study was among TOP TEN posters presented13th International Child Neurology Congress200441st SSIEM Annual Symposium Travel ScholarshipAwarding Organization1996Augusta Alabastro Award for best dissertation in Pediatric Neurology and PsychiatryAwarding OrganizationShow more awards and honorsProfessional memberships2023Abstract Reviewers for 2024 ACMG Annual Clinical Genetics MeetingAmerican College of Medical Genetics and Genomics2023 - presentConsensus Group PanelMPS Delphi panel2023 - presentMemberMN Pompe Consortium 2022 - 2024MemberExternal Expert Panel for North Carolina's MPS II Pilot Study2021 - presentMemberGenomics Education Committee, Mayo Clinic Rochester Committees2020 - 2024MemberAmerican College of Medical Genetics and Genomics2018 - 2019Advisory MemberAlnylam Pharmaceutical, Inc.2018 - 2021MemberClinical and Laboratory Standards Institute 2017 - 2020MemberAmerican College of Medical Genetics and Genomics2013 - presentMemberAmerican College of Medical Genetics and Genomics2011 - 2017MemberAmerican College of Medical Genetics and Genomics2011 - 2012MemberInformation Management Planning Committee, Department of Laboratory Medicine and Pathology2009 - presentMemberSociety for the Study of Inborn Errors of MetabolismShow more professional membershipsPublicationsSee my publications Mayo Clinic locationsEducationActivities and honors Request an appointment PST-20223927 الأطباء والفريق الطبي Tortorelli, Silvia M.D., Ph.D.