American Association for Clinical Chemistry
Better health through laboratory medicine
Plenary Session - Newborn Screening For Inforn Errors of Metabolism In the 21st Century
Manson

bloom

Tuesday, July 29

NEWBORN SCREENING FOR
INBORN ERRORS OF METABOLISM
IN THE 21ST CENTURY

PIERO RINALDO, MD, PHD
KAITLYN N. BLOOM, PHD

Session Overview
Implementation of newborn screening has affected the lives of thousands of children. Forty metabolic diseases can now be detected at birth; with appropriate treatment, these children can lead a longer and better life. With recent advances based on world-wide data sets, results interpretation has improved significantly. Future research leading to better outcomes will require well thought out strategies to guide selection of assessment tools and target audiences. Hear a patient describe how newborn screening affected her life, and a leading scientist describe the future of newborn screening.

About The Speakers:
Piero Rinaldo is T. Denny Sanford Professor of Pediatrics at the Mayo Clinic. He is board certified in Clinical Biochemical Genetics and a co-director of the Biochemical Genetics Laboratory at Mayo Clinic. He also serves as the vice-chair of Information Management in the Department of Laboratory Medicine & Pathology. He holds joint appointments in the Departments of Pediatrics & Adolescent Medicine and Medical Genetics. Dr. Rinaldo has published more than 170 peer-review articles. His current research interest is the implementation of multivariate pattern recognition software to the interpretation of complex profiles of clinical laboratory results – applying the concepts of Big Data to newborn screening.

Kaitlyn Bloom recently completed a Doctor of Philosophy degree in Human Genetics at the University of Pittsburgh, Graduate School of Public Health and is now a Clinical Biochemical Genetics fellow at The Children’s Hospital in Philadelphia. She is also a state appointed patient advocate for Pennsylvania’s Newborn Screening Program. Dr Bloom also participates as a consumer/family representative from the NYMAC regional genetics collaborative and serves on the NGECN (National Genetics Education and Consumer Network) advisory board that helps direct efforts and engages consumers in the networks of the regional collaboratives. Her current research interest is in inborn errors of metabolism, specifically fatty acid oxidation defects.

 

 

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