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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

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

Published On 2024 Mar 21

Journal article

The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National Institutes of Health and includes 12 different clinical sites (About Us, 2022). Here we highlight the success of collaborative efforts within the UDN Clinical Site at Vanderbilt University Medical Center (VUMC) in utilizing a cohort of experts in bioinformatics, structural biology, and genetics specialists in diagnosing rare disease. Our...


Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Published On 2024 Mar 20

Journal article

ATP1A1 encodes a sodium-potassium ATPase that has been linked to several neurological diseases. Using exome and genome sequencing, we identified the heterozygous ATP1A1 variant NM_000701.8: c.2707G>A;p.(Gly903Arg) in two unrelated children presenting with delayed motor and speech development and autism. While absent in controls, the variant occurred de novo in one proband and co-segregated in two affected half-siblings, with mosaicism in the healthy mother. Using a specific ouabain resistance...