Current Environment:

Researcher | Research Overview

Dr. Bodamer’s laboratory studies multifaceted human phenotypes, including prematurity, Kabuki and Kabukilike syndromes, and lysosomal storage disorders. His laboratory uses a translational science approach with the goals to 1) identify novel underlying molecular mechanisms of disease; 2) understand phenotypic variability at the molecular level; and to 3) ultimately identify novel biomarkers and therapeutic approaches. His laboratory closely collaborates with different clinical specialties at Boston

Laboratory Projects:

  1. Deep Phenotyping of Kabuki Syndrome: Our laboratory studies the underlying disease mechanism in Kabuki and Kabuki-like syndromes using a novel systems biology approach in humans and animal models. The goal is to gain a better understanding of phenotypic variability with the potential to identify therapeutic targets.
  2. Precision Medicine and Premature Birth (PMAP study):We currently collect longitudinal data on the complex interplay of the environment, microbiome, proteome, metabolome, transcriptome, methylome and genome during term and preterm pregnancies, and post-natal infancy to understand the pathophysiology of preterm birth using a systems biology approach.

Researcher | Research Background

Dr. Bodamer obtained his M.D. degree from the University of Heidelberg, Germany, and his Ph.D. degree from the University of Saarland, Germany. Following pediatric residencies in Germany and at the Great Ormond Street Hospital in London, UK, he moved to the United States for a fellowship in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. Subsequent to directing the Austrian Newborn Screening Program, he returned to the United States in 2010 to join the University of Miami as the founding Chief of the Division of Clinical and Translational Genetics and the Director of the Medical Genetics Laboratories. Dr. Bodamer was recruited to Boston Children’s Hospital in 2015 as Associate Chief for Genetics and Genomics, where he also has an established research laboratory. He is member of several Editorial and Scientific Advisory Boards, including Molecular Genetics and Metabolism, Journal of Inherited Diseases, Translational Medicine and Translational Journal of Rare Disease and of Patient Organizations (All Things Kabuki and OAA) respectively. Dr. Bodamer is the Director of the Boston Children’s Lysosomal Storage Disease (BoLD) Program and Boston Children’s Roya Kabuki Program.

Selected Publications

  1. Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017; 12:1-17.
  2. Tuschl K, …., Bodamer OA et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun 2016; 7:1-16.
  3. Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016; 89:359-266.


Researcher | Publications