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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 use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy

Published On 2025 Aug 29

Journal article

OBJECTIVE: The Developmental and Epileptic Encephalopathies (DEE) are associated with serious and life-long neurological conditions and risk of early mortality. Here we describe the chronic treatment of a boy with PLCB1-related DEE with enteral myo-inositol supplementation as an add-on therapy to standard antiseizure medications that had been ineffective, and present novel findings in our lethal Slc5a3 knockout mouse model to substantiate our hypothesis for a novel role of myo-inositol in...


Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism

Published On 2025 Aug 21

Journal article

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS)...