Rochester, Minnesota


Rinaldo@mayo.edu Clinical Profile


Dr. Rinaldo is currently interested in the clinical implementation of multivariate pattern recognition software that improves the interpretation of complex profiles of laboratory results.

The goal is to integrate all clinically significant results available to diagnose a particular condition in a single score in a manner that is objective, evidence-based, and open to worldwide collaboration and data sharing. The software produces post-analytical tools that are available on demand through a web interface.

This approach was first applied to newborn screening, and has grown to involve 168 programs in 50 countries, and the creation of the largest database of true positive cases (>14,000 cases, almost 1 million data points).

Focus areas

  • Laboratory quality improvement of newborn screening
  • Laboratory quality improvement of Clinical Biochemical Genetics
  • Dynamic, on-going clinical validation of new laboratory tests
  • Validation of pediatric reference ranges based on a continuum set of data

Significance to patient care

Currently, the approach outlined above has resulted in performance metrics (low false positive rate, high positive predictive value) that are 10 times better than the national average for newborn screening of metabolic disorders by tandem mass spectrometry.

Professional highlights

  • Board of Directors, American College of Medical Genetics (ACMG), 2007-2013
  • Vice-President of Laboratory Genetics, American College of Medical Genetics (ACMG), 2009-2013
  • Member, HHS Secretary Advisory Committee for Heritable Disorders in Newborns and Children, 2004-2010
  • T. Denny Sanford Professor of Pediatrics, 2007
  • Maxwell J. Schleifer Distinguished Service Award, Disability Awareness Night sponsored by Major League Baseball (Minnesota Twins) and Exceptional Parent (EP), 2003

Clinical Studies

See my clinical studies


See my publications


Primary Appointment

  1. Consultant, Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology

Joint Appointment

  1. Consultant, Division of Pediatric Genetics, Department of Pediatric and Adolescent Medicine
  2. Consultant, Department of Medical Genetics

Academic Rank

  1. Professor of Laboratory Medicine and Pathology


  1. PhD - Research Doctor of Developmental Sciences. Thesis: Development of a new method for the diagnosis of inherited disorders of beta-oxidation and its application to the study of SIDS Universita di Padova
  2. Post-Doc - Human Genetics Yale University
  3. Resident - Pediatrics Universita di Padova School of Medicine
  4. MD - Thesis: Qualitative and quantitative analysis of organic acid excretion in neonatal urine by gas chromatography/mass spectrometry Universita di Padova
  5. Internship - Pediatrics Universita di Padova School of Medicine

Mayo Clinic Footer