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: Haploinsufficiency of RBBP5 observed through de novo null and hypomorphic loss-of-function variants is associated with a syndromic neurodevelopmental disorder.
Journal article
OBJECTIVE: Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC) Natural History cohort at year 5 of the study.
