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Research Overview

Dr. Gerard T. Berry’s primary interest is in carbohydrate metabolism, and galactosemia. Dr. Berry’s basic science and clinical research efforts are focused on hereditary galactosemia, and inositol metabolism in the brain, particularly during fetal development. He has employed in vivo isotope kinetic studies using [13C]-labeled sugars and mass spectrometry to dissect whole body galactose metabolism and breath testing to establish genotype-phenotype relationships in patients with galactosemia due to galactose-1-phosphate uridyltransferase (GALT) deficiency. He is working with investigators in the USA and Europe to establish an international database of patients with galactosemia.

Laboratory Projects

  1. Genotype-Phenotype Correlations in Galactosemia:We are using state-of-the-art LC-MS/MS-based methods to establish relationships between residual GALT enzyme activities linked with the genotype and long-term complications such as CNS disease.

  2. Use of iPS cells and derived synthetic neurons to delineate the mechanisms of neuronal dysfunction and cell death in galactosemia:We are employing galactosemic neurons in culture exposed to varying degrees of galactose stress to identify proximal pathways that initiate cellular perturbations and damage using a multiple omics approach. CRISPR/Cas9 gene editing is used to correct the GALT gene mutations.

  3. Use of a fetal brain myo-inositol deficiency model to study its impact on brain development: As certain patients with galactosemia exhibit brain myo-inositol deficiency in the neonatal period, we are utilizing sodium myo-inositol / transporter (SLC5A3) knockout mice to study the impact of severe brain myoinositol deficiency, as well as loss of SMIT1 protein, on cell signaling and neuronal excitability.

Research Background

Gerard T. 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 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. As a member of the SIMD Board of Directors, Dr. Berry is the SIMD Membership Chair. He is the co-chair of the UDN metabolomics working group.

Selected Publications

  1. Berry GT, Moate PJ, Reynolds RA, Yager CT, Ning C, Boston RC and Segal S. The Rate of De Novo Galactose Synthesis in Patients with Galactose -1-Phosphate Uridyltransferase (GALT) Deficiency. Mol. Genet. Metab. 81: 22-30, 2004. (2004 SIMD Emmanuel Shapiro Award)
  2. Berry GT, Wu S, Buccafusca R, Ren J, Gonzales LW, Ballard P, Golden J, Stevens MJ and Greer JJ. Loss of murine Na+/myo-inositol cotransporter leads to brain myo-inositol depletion and central apnea. J. Biol. Chem. 92: 18297-18302, 2003.
  3. Abbott GW, Tai K, Neverisky D, Hansler A, Hu Z, Roepke TK, Lerner DJ, Chen Q, Liu L, Zupan B, Toth M, Haynes R, Huang X, Demirbas D, Buccafusca R, Gross SS, Kanda VA*, Berry GT*. KCNQ1, KCNE1, and NA+-Coupled Solute Transporters Form Reciprocally Regulating Complexes that Affect Neuronal Excitability. Science Signaling. 7, ra22, 2014.

Publications