Olaf Bodamer, MD, PhD, MA
Director, Roya Kabuki Program; Director, NORD Rare Disease Center
Professor of Pediatrics, Harvard Medical School
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Olaf Bodamer, MD, PhD, MA
Director, Roya Kabuki Program; Director, NORD Rare Disease Center
Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
German
Education
Medical School
Medical School Medical School Heidelberg
1989
Heidelberg
Germany
Residency
Great Ormond Street Hospital for Children
1997
London
United Kingdom
Fellowship
Postdoctoral
Baylor College of Medicine
2001
Houston
TX
Certifications
American Board of Medical Genetics and Genomics (Clinical Genetics)
American Board of Medical Genetics and Genomics (Clinical Biochemical Genetics)
Professional History
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 completed a fellowship in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. Subsequent to directing the Austrian Newborn Screening Program, he then joined 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 established a 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.
Dr. Bodamer serves as an expert for the Department of Genetics & Genomics for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.
Publications
Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation. View Abstract
Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C. View Abstract
A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions. View Abstract
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases. View Abstract
Animal models of Kabuki syndrome and their applicability to novel drug discovery. View Abstract
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. View Abstract
KMT2D regulates activation, localization, and integrin expression by T-cells. View Abstract
Characterization of central manifestations in patients with Niemann-Pick disease type C. View Abstract
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators. View Abstract
Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome. View Abstract
Sengers syndrome and AGK-related disorders - Minireview of phenotypic variability and clinical outcomes in molecularly confirmed cases. View Abstract
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome. View Abstract
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International. View Abstract
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX. View Abstract
Persistent Lactic Acidosis in an Infant With Milk Protein Allergy. View Abstract
From Genotype to Phenotype-A Review of Kabuki Syndrome. View Abstract
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). View Abstract
Assessment of Glucocerebrosidase Enzyme Activity in Parkinson Disease Using Multiple Approaches. View Abstract
A solid start for gene therapy in Tay-Sachs disease. View Abstract
Targeting neurological abnormalities in lysosomal storage diseases. View Abstract
Lysine methyltransferase 2D regulates muscle fiber size and muscle cell differentiation. View Abstract
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder. View Abstract
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates. View Abstract
Caring for Caregivers: Implications for Providing Authentic Family-Centered Care. View Abstract
The otolaryngologic manifestations of Sotos syndrome 1: A systematic review. View Abstract
Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms. View Abstract
Congenital microgastria-limb reduction association: A case report and review of the literature. View Abstract
Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. View Abstract
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study. View Abstract
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). View Abstract
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome. View Abstract
The tale of two genes: from next-generation sequencing to phenotype. View Abstract
An emerging role for endothelial barrier support therapy for congenital disorders of glycosylation. View Abstract
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. View Abstract
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. View Abstract
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. View Abstract
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. View Abstract
Holoprosencephaly in Kabuki syndrome. View Abstract
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. View Abstract
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. View Abstract
Prenatal and perinatal history in Kabuki Syndrome. View Abstract
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. View Abstract
Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. View Abstract
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes. View Abstract
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. View Abstract
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. View Abstract
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. View Abstract
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. View Abstract
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals". View Abstract
Kabuki syndrome: international consensus diagnostic criteria. View Abstract
Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes. View Abstract
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. View Abstract
Expanding the clinical spectrum of biallelic ZNF335 variants. View Abstract
A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. View Abstract
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. View Abstract
Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. View Abstract
Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation. View Abstract
Newborn Screening for Pompe Disease. View Abstract
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). View Abstract
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity. View Abstract
Dark Colored Urine in a 2-Year-Old Child. View Abstract
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics. View Abstract
Newborn Screening for Lysosomal Storage Disorders. View Abstract
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis? View Abstract
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. View Abstract
Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells. View Abstract
Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype. View Abstract
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. View Abstract
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I. View Abstract
Liver, pancreas and kidney transplantation for the treatment of Wolcott-Rallison syndrome. View Abstract
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. View Abstract
Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry. View Abstract
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. View Abstract
Diagnosis of lysosomal storage disorders: Gaucher disease. View Abstract
Screening for late-onset Pompe disease in Finland. View Abstract
Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population. View Abstract
Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes. View Abstract
Phenylketonuria Scientific Review Conference: state of the science and future research needs. View Abstract
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model. View Abstract
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. View Abstract
Update on transcobalamin deficiency: clinical presentation, treatment and outcome. View Abstract
Diagnosing lysosomal storage disorders: mucopolysaccharidosis type II. View Abstract
Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray. View Abstract
Analysis of lyso-globotriaosylsphingosine in dried blood spots. View Abstract
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. View Abstract
Diagnosing lysosomal storage disorders: Fabry disease. View Abstract
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation. View Abstract
Diagnosing lysosomal storage disorders: Pompe disease. View Abstract
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. View Abstract
Analysis of acid sphingomyelinase activity in dried blood spots using tandem mass spectrometry. View Abstract
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. View Abstract
Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. View Abstract
Concurrent FOXP3- and CTLA4-associated genetic predisposition and skewed X chromosome inactivation in an autoimmune disease-prone family. View Abstract
Newborn screening for lysosomal storage disorders in hungary. View Abstract
Enhanced interpretation of newborn screening results without analyte cutoff values. View Abstract
Expert recommendations for the laboratory diagnosis of MPS VI. View Abstract
Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU). View Abstract
Propionic acidemia: neonatal versus selective metabolic screening. View Abstract
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. View Abstract
The role of enzyme replacement therapy in severe Hunter syndrome-an expert panel consensus. View Abstract
Mutation analysis in 54 propionic acidemia patients. View Abstract
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. View Abstract
Effects of creatine supplementation in Rett syndrome: a randomized, placebo-controlled trial. View Abstract
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. View Abstract
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. View Abstract
Molecular analysis of guanidinoacetate-n-methyltransferase (GAMT) and creatine transporter (SLC6A8) gene by using denaturing high pressure liquid chromatography (DHPLC) as a possible source of human male infertility. View Abstract
Early access experience with VPRIV(®): recommendations for 'core data' collection. View Abstract
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. View Abstract
Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children. View Abstract
Analysis of glucocerebrosidase activity in dry blood spots using tandem mass spectrometry. View Abstract
Laboratory and genetic evaluation of Gaucher disease. View Abstract
Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation. View Abstract
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. View Abstract
Semi-quantitative method for determination of hematocrit in dried blood spots, using data collected in HPLC hemoglobin variant testing. View Abstract
Magnetic resonance spectroscopy in patients with Fabry and Gaucher disease. View Abstract
Guidelines for the restart of imiglucerase in patients with Gaucher disease: recommendations from the European Working Group on Gaucher disease. View Abstract
A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia. View Abstract
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). View Abstract
Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. View Abstract
Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. View Abstract
Danon disease: case report and detection of new mutation. View Abstract
Transcobalamin II deficiency at birth. View Abstract
Introduction of a novel prototype bioartificial liver support system utilizing small human hepatocytes in rotary culture. View Abstract
Low creatinine: the diagnostic clue for a treatable neurologic disorder. View Abstract
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry. View Abstract
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders. View Abstract
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry. View Abstract
Heparin cofactor II-thrombin complex: a biomarker of MPS disease. View Abstract
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. View Abstract
Congenital disorders of glycosylation--a challenging group of IEMs. View Abstract
Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis. View Abstract
Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria. View Abstract
Newborn screening in Fabry disease: what can be achieved with early diagnosis? View Abstract
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. View Abstract
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. View Abstract
Metabolic changes in the normal ageing brain: consistent findings from short and long echo time proton spectroscopy. View Abstract
Trisomy 1q42.3-qter and monosomy 21q22.3-qter associated with ear anomaly, facial dysmorphology, psychomotor retardation, and epilepsy: delineation of a new syndrome. View Abstract
Expanded newborn screening in Europe 2007. View Abstract
Screening for leukemia- and clone-specific markers at birth in children with T-cell precursor ALL suggests a predominantly postnatal origin. View Abstract
Manifestation of hawkinsinuria in a patient compound heterozygous for hawkinsinuria and tyrosinemia III. View Abstract
Severe speech delay as the presenting symptom of guanidinoacetate methyltransferase deficiency. View Abstract
Methylation status in females with rett syndrome. View Abstract
Long-term stability of amino acids and acylcarnitines in dried blood spots. View Abstract
Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria. View Abstract
Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. View Abstract
Influence of hematocrit and localisation of punch in dried blood spots on levels of amino acids and acylcarnitines measured by tandem mass spectrometry. View Abstract
Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. View Abstract
Prenatal and postnatal treatment in cobalamin C defect. View Abstract
Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency. View Abstract
Central nervous system malformations in oral-facial-digital syndrome, type 1. View Abstract
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. View Abstract
Mucopolysaccharidosis type II in females: case report and review of literature. View Abstract
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. View Abstract
Rapid analysis of total plasma homocysteine by tandem mass spectrometry. View Abstract
Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting. View Abstract
Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? View Abstract
Fabry disease defined. View Abstract
Recurrent acroparaesthesia during febrile infections. View Abstract
Characterization of seven novel mutations in seven patients with GAMT deficiency. View Abstract
Hypoketotic hypofattyacidaemic hypoinsulinaemic hypoglycaemia in a child with hemihypertrophy? A new syndrome. View Abstract
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency. View Abstract
Reversibility of cirrhotic regenerative liver nodules upon NTBC treatment in a child with tyrosinaemia type I. View Abstract
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism. View Abstract
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. View Abstract
Utilization of cornstarch in glycogen storage disease type Ia. View Abstract
Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia. View Abstract
L-alanine supplementation in late infantile glycogen storage disease type II. View Abstract
Familial complex chromosomal rearrangement resulting in a recombinant chromosome. View Abstract
Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). View Abstract
Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency. View Abstract
Practical management of combined methylmalonicaciduria and homocystinuria. View Abstract
Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. View Abstract
Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry. View Abstract
Uses of stable isotopes in clinical diagnosis and research in the paediatric population. View Abstract
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). View Abstract
Atypical presentation of amniotic band sequence. View Abstract
Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. View Abstract
Subdural hematomas and glutaric aciduria type I. View Abstract
The effects of l-alanine supplementation in late-onset glycogen storage disease type II. View Abstract
Measurement of carbon dioxide production in very low birth weight babies. View Abstract
Resting energy expenditure in disorders of propionate metabolism. View Abstract
Deletion (9) (p13.1 p21.1). View Abstract
Psychiatric symptoms of inherited metabolic disease. View Abstract
Protein, glucose and energy metabolism in Gaucher disease type I. View Abstract
Sublingual therapy for cobalamin deficiency. View Abstract
Importance of measuring plasma cholesterol precursors. View Abstract
Increased resting energy expenditure in glycogen storage disease type Ia. View Abstract
Effects of fish oil supplementation on apolipoprotein B100 production and lipoprotein metabolism in normolipidaemic males. View Abstract
Leucine and glucose kinetics in glycogen storage disease type IIIa. View Abstract
Assessment of energy expenditure in metabolic disorders. View Abstract
Measurement of glucose turnover--implications for the study of inborn errors of metabolism. View Abstract
Dietary treatment in late-onset acid maltase deficiency. View Abstract
Stable isotope studies in inborn errors of metabolism--implications and conclusions. View Abstract
Protein turnover in critically ill children. View Abstract
H2-breath tests--importance of adequate storage of breath samples. View Abstract
Medicine in Germany. View Abstract
Intermittent maple syrup disease. View Abstract