Director, Metabolism Program
Boston Children’s Hospital Harvey Levy Chair in Metabolism
Boston Children’s Hospital Professor of Pediatrics
Harvard Medical School
Dr. Berry is the Harvey Levy Chair in Metabolism at the Boston
Children’s Hospital, and Professor of Pediatrics at the Harvard Medical School.
He is the Director of the Metabolism Program at
BCH, and the Harvard Medical School Biochemical Genetics
Training Program. He received an MD degree from the Jefferson Medical
College and completed his residency in pediatrics at the Thomas Jefferson
University Hospital in 1978. He then began a combined fellowship in biochemical
genetics and pediatric endocrinology at the Children’s Hospital of
Philadelphia, and joined the faculty of the University of Pennsylvania School
of Medicine as an Assistant Professor of Pediatrics in 1981. Dr. Berry was
promoted to Professor of Pediatrics in 1995. He was the recipient of the 2004 Emmanuel
Shapiro SIMD Award. Dr. Berry is the president of the Society for Inherited
Metabolic Disorders (“SIMD”). He is also co-chair of the Undiagnosed Disease Network‘s Metabolomics Working Group.
Director, Metabolism Program
Boston Children’s Hospital Harvey Levy Chair in Metabolism
Boston Children’s Hospital Professor of Pediatrics
Harvard Medical School
Dr. Berry is the Harvey Levy Chair in Metabolism at the Boston
Children’s Hospital, and Professor of Pediatrics at the Harvard Medical School.
He is the Director of the Metabolism Program at
BCH, and the Harvard Medical School Biochemical Genetics
Training Program. He received an MD degree from the Jefferson Medical
College and completed his residency in pediatrics at the Thomas Jefferson
University Hospital in 1978. He then began a combined fellowship in biochemical
genetics and pediatric endocrinology at the Children’s Hospital of
Philadelphia, and joined the faculty of the University of Pennsylvania School
of Medicine as an Assistant Professor of Pediatrics in 1981. Dr. Berry was
promoted to Professor of Pediatrics in 1995. He was the recipient of the 2004 Emmanuel
Shapiro SIMD Award. Dr. Berry is the president of the Society for Inherited
Metabolic Disorders (“SIMD”). He is also co-chair of the Undiagnosed Disease Network‘s Metabolomics Working Group.
Journal article
CONCLUSION: We describe the case of IDDAM caused by a paternally inherited CHD8 variant. Our findings highlight the importance of considering parental inheritance in IDDAM diagnoses and suggest epigenetic and structural biology analyses as valuable tools for reclassifying VUS when variant pathogenicity remains uncertain.
Journal article
CONCLUSION: This study provides an evidence-based framework for variant prioritization in ES and GS data using Exomiser and Genomiser. These recommendations have been implemented in the Mosaic platform to support the ongoing analysis of undiagnosed UDN participants and provide efficient, scalable reanalysis to improve diagnostic yield. Our work also highlights the importance of tracking solved cases and diagnostic variants that can be used to benchmark bioinformatics tools. Exomiser and...