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Gerard Berry

M.D., FACMG

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.

Gerard Berry

M.D., FACMG

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.

Recent Publications

The treatment of biochemical genetic diseases: From substrate reduction to nucleic acid therapies

Published On 2023 Sep 16

Journal article

Newborn screening (NBS) began a revolution in the management of biochemical genetic diseases, greatly increasing the number of patients for whom dietary therapy would be beneficial in preventing complications in phenylketonuria as well as in a few similar disorders. The advent of next generation sequencing and expansion of NBS have markedly increased the number of biochemical genetic diseases as well as the number of patients identified each year. With the avalanche of new and proposed...


HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

Published On 2023 Aug 04

Journal article

Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously abundant protein involved in mRNA processing. Genetic variants in other members of the HNRNP family have been associated with neurodevelopmental disorders. Here, we describe 13 individuals with global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology with heterozygous HNRNPC germline variants. Five of them bear an identical in-frame deletion of nine amino acids...