University at Buffalo - The State University of New York
Skip to Content
Georgirene                     Vladutiu

Georgirene D. Vladutiu PhD

Department of Pediatrics

Professor

Specialty/Research Focus

Cardiovascular Disease; Clinical Biochemical Genetics; Molecular and Cellular Biology; Molecular Genetic Pathology - Clinical Biochemical; Molecular genetics; Pediatric Genetics; Pediatric Pathology; Pediatrics

 

Education and Training:
  • Postdoctoral Fellow, Human Genetics, University at Buffalo (1976)
  • PhD, Microbiology and Immunology, University at Buffalo (1973)
  • MA, Microbiology, University at Buffalo (1970)
  • BS, Bacteriology, Syracuse University (1966)
Employment:
  • Professor, Pediatrics, Neurology and Pathology, University at Buffalo (2001-present)
  • Director, Robert Guthrie Biochemical and Molecular Genetics Laboratory (1984-present)
  • Associate Professor, Pathology and Anatomical Sciences, University at Buffalo (1998–2001)
  • Associate Professor, Neurology, University at Buffalo (1995–2001)
  • Associate Professor, Pediatrics, University at Buffalo (1984–2001)
  • Acting Director, Division of Human Genetics, Pediatrics, Women and Children‘s Hospital of Buffalo (1986–1989)
  • Research Associate Professor, Pediatrics, University at Buffalo (1981–1984)
  • Research Assistant Professor, Pediatrics, University at Buffalo (1977–1981)
  • Research Assistant, Microbiology and Medicine, Duke University, School of Medicine (1966–1967)
Awards and Honors:
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Exceptional Scholar-Sustained Achievement Award (2010)
  • American Association of Clinical Chemists: Outstanding Speaker Award (2002)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Faculty Development Award (1998)
  • United Mitochondrial Disease Foundation: Recognition Award for Service to the Scientific Advisory Board and the Research Grant Program (2001-2002)
  • National Institutes of Health: Research Career Development Award (1980-1985)
  • U.S. Public Health Service: Postdoctoral Fellowship Award (1974-1976)

Research Expertise:
  • Aminoacidopathies
  • Inborn errors of metabolism: Study of metabolic muscle disease (i.e. mitochondrial myopathies, disorders of purine, glycogen, and lipid metabolism)
  • Lysosomal storage diseases
  • Muscle disease
Grants and Sponsored Research:
  • May 2008–March 2014
    Genetic Susceptibility to Lipid-Lowering Drug-Induced Myopathies
    NHLBI
    Role: Principal Investigator
    $2,014,235
  • November 2011–October 2013
    Development of a Mitochondrial Disease Patient Registry
    Columbia University Medical Center
    Role: Principal Investigator
    $2,000
  • September 2011–August 2013
    North American Mitochondrial Disease Consortium
    Columbia University Medical Center
    Role: Principal Investigator
    $3,000
  • January 2007–January 2011
    Confirmatory Testing Associated with Expanded Newborn Screening: Phenotype and Genotype Correlation
    Role: Principal Investigator
    $80,000
  • January 2008–January 2010
    Role of Narexin in Neuromuscular Disease
    Role: Co-Investigator
    $220,000
  • January 2008–January 2009
    Comprehensive Genotyping for Susceptibility to Metabolic Muscle Disease
    Role: Co-Principal Investigator
    $100,000
  • October 2003–September 2008
    Improved Diagnosis of Metabolic Myopathies
    The John R. Oishei Foundation
    Role: Principal Investigator
    $354,000
  • July 2003–June 2006
    Improved Diagnosis of Metabolic Diseases Among the Statin Myopathies
    Muscular Dystrophy Association
    Role: Principal Investigator
    $262,648
  • April 2004–December 2004
    Interdisciplinary Research and Creative Activities Fund (IRCAF) Grant
    University at Buffalo
    Role: Principal Investigator
    $34,000

Journal Articles:
See all (79 more)
Abstracts:
  • Vladutiu GD, Isackson PJ, Olson KR, Matern D. Phenotype-Genotype Correlation in Carnitine Palmitoyl Transferase (CPT) II Deficiency: Implications for Newborn Screening. Mol Genet Metab. 2009; 98.
  • Isackson PJ, Wunsch K, Vladutiu GD. Partial Carnitine Palmitoyl Transferase II Deficiency Caused by Mutations in the Gene for Very Long-Chain acyl-CoA Dehydrogenase. Mol Genet Metab. 2009; 98.
  • Vladutiu GD, Isackson PJ. Muscle Coenzyme Q10 Deficiency in Statin Myopathy. Mol Genet Metab. 2009; 98.
  • Sripathi N, Gutierrez JA, Vladutiu GD. Pathological and Biochemical Features of Myopathy Associated with Statins. Neurol. 2005; 64(Suppl).
  • Vladutiu GD, Isackson PJ. The Relationship Between Metabolic Muscle Disease and Cholesterol-lowering Drugs. Mol Genet Metab. 2004; 81.
  • Pendergast DR, Vladutiu GD, Fisher NM, Smail D, Doubrava M. The Distribution of Cellular and Total Body Fat Oxidation in Health and Disease. FASEB J. 2002; 16.
  • Vladutiu GD, Smail D, Bennett MJ. Complex Phenotypes and Genotypes Among the Triggerable Myopathies. J Inherit Metab Dis. 2000; 23(Sup 1).
  • Chen N, Hollingsworth M, Smail D, Vladutiu GD. Molecular Analysis of Human Carnitine Palmitoyl Transferase II (CPT II) Deficiencies in the Pichia Pastoris Expression System. Am J Hum Genet. 2000; 67.
  • Vladutiu GD, Quackenbush E, Hainline BE, Smail D, Bennett MJ. Variable Phenotypes Associated with a Protein Truncation Mutation in Carnitine Palmitoyl Transferase II Deficiency. Am J Hum Genet. 2000; 67.
  • Smail D, Bennett MJ, Gambino L, Vladutiu GD. A G>T Substitution Downstream from the CPT2 Gene Polydenylation Site Associated with Carnitine Palmitoyl Transferase II Deficiency. Am J Hum Genet. 2000.
  • Vladutiu GD, Smail D. Variant Alleles in the CPT2 Gene are Associated with Increased Susceptibility to Carnitine Palmitoyl Transferase II Deficiency. Am J Hum Genet. 1999; 65.
  • Taggart RT, Vladutiu GD, Smail D. Mutation Analysis of Carnitine Palmitoyl Transferase Deficiency. FASEB J. 1998; 12.
  • Vladutiu GD, Taggart RT, Smail D, Lindsley HB, Hogan K. A Carnitine Palmitoyl Transferase II (CPT2) Arg503Cys Mutation Confers Malignant Hyperthermia and Variable Myopathy. Am J Hum Genet. 1998; 63.
  • Taggart RT, Apolito C, Smail D, Vladutiu GD. Mutation Analysis of Carnitine Palmitoyl Transferase Deficiency. Am J Hum Genet. 1997; 61.
  • Vladutiu GD, Srivastava S. Non-invasive Molecular Testing for Carnitine Palmitoyl Transferase Deficiency. Am J Hum Genet. 1996; 59.
  • Fine EJ, Vladutiu GD, Warner C, Heffner RR, Wong LJC. Increasing Numbers of Mutant Mitochondria May Determine Course in Kearns-Sayre Syndrome. Soc Neurosci. 1996; 22.
  • Vladutiu GD, Tassini L, Idiculla S, Surdyk C. Biochemical and Histopathological Screen in Suspected Cases of Mitochondrial Myopathies. Pediatr Res. 1995; 37(4).
  • Sokol RJ, Narkewicz MR, Greene C, Karrer FM, Vladutiu GD, DiMauro S. Successful Liver Transplantation for Fulminant Hepatic Failure in Infancy with Severe Lactic Acidosis and Hepatic Mitochondrial Electron Transport Defect. Hepatology. 1994; 20.
  • Vladutiu GD, Tassini L, Idiculla S, Surdyk C. Succinate Dehydrogenase and Citrate Synthase as Biochemical Markers for Mitochondrial Myopathies. Am J Hum Genet. 1994; 55.
  • Twiss JL, Herrick MK, Vladutiu GD, Horoupian DS. Glycogenesis Type IV (Andersen's Disease) with Intraneuronal Cytoplasmic Involvement. J Neuropathol Exp Neurol. 1993; 52.
  • Vladutiu GD, Saponara I, Mitsumoto H, DeBoer GE, Conroy J. Mitochondrial Myopathies in Patients Contracture-tested for Malignant Hyperthermia. Pediatr Res. 1993; 33.
  • Vladutiu GD, McKinley K, Goodman C, Harati Y. Evaluation of Muscle Oxidative Phosphorylation in Adult Onset Mitochondrial Myopathy Before and After Successful Treatment with Cofactors. Am J Hum Genet. 1992; 51.
  • Vladutiu GD, Saponara I, Conroy J, Brady LJ, Brady PS. Characterization of Partial Carnitine Palmitoyl Transferase Deficiency in Muscle. Pediatr Res. 1991; 29.
  • Gingell RL, Vladutiu GD. Infantile Mitochondrial Cardiomyopathy with Cylindrical Spirals and Elevated Plasma Carnitine. Am J Hum Genet. 1989; 45.
  • Vladutiu GD, Black C. Electrophoretic Analysis of Hexosaminidase S in Tay-Sachs Disease Carrier Detection. Am J Hum Genet. 1989; 45.
  • Gingell RL, Vladutiu GD. Isolated Infantile Myocardial Mitochondriopathy with Cylindrical Spirals: Clinical, Morphological and Biochemical Features. Pediatr Res. 1989; 25.
  • Fine EJ, Heffner RR, Vladutiu GD, Soria E. Lipid Myopathy in a Septuagenarian. Muscle Nerve. 1989; 12.
  • Vladutiu GD. Quantitation of Hexosaminidase S Activity in Tay-Sachs Carrier Screening of Leukocytes Using Fluorogenic Sulfated Substrate. Isozymes. 1989; 22.
  • Vladutiu GD. Alterations in Acid Alpha-Glucosidase in Cystic Fibrosis. Pediatr Res. 1988; 23.
  • Vladutiu GD, Miller AL. Complex Glycosylated Hydrolases are Targeted to Lysosomes in Mucolipidosis I Fibroblasts. Fed Proc. 1984; 43.
  • Vladutiu GD, Mueller OT. Amino Acid Analogs Alter Glycosylation of Beta-Hexosaminidase in Fibroblasts. Fed Proc. 1983; 42.
  • Rattazzi MC, O'Neil DC, Vladutiu GD. Towards Enzyme Replacement in Gm2 Gangliosidosis: Properties of Poly-L-Lysine Beta-Hexosaminidase. Pediatr Res. 1983; 17.
  • Rattazzi MC, Vladutiu GD. Towards Enzyme Replacement in Gm2 Gangliosidosis: Properties of Poly-L-Lysine-Conjugated Beta-Hexosaminidase. Am J Hum Genet. 1982; 34.
  • Vladutiu GD. Complex Glycosylation and Phosphorylation of Beta-Hexosaminidase in Normal and Mucolipidosis I Fibroblast Cultures. Fed Proc. 1982; 41.
  • Vladutiu GD. Inhibition of Beta-Hexosaminidase Excretion in I-cell Fibroblast Cultures. Fed Proc. 1981; 40.
  • Vladutiu GD, Rattazzi MC. Excretion and Specific Uptake of Beta-Hexosaminidase by Normal and I-cell Disease Cultured Fibroblasts. Pediatr Res. 1979; 13.
  • Vladutiu GD, Rattazzi MC. Reduction of Beta-Hexosaminidase Excretion by 2-Deoxyglucose and Tunicamycin in I-cell Disease Fibroblasts. Fed Proc. 1979; 38.
  • Vladutiu GD, Rattazzi MC. The Excretion-Reuptake Route of Beta-Hexosaminidase in Normal and I-cell Disease Cultured Fibroblasts. Am J Hum Genet. 1978; 30.
  • Vladutiu GD, Rattazzi MC. I-cell Disease: Impaired Fibroblast Uptake of Beta-Hexosaminidase is Not Due to Excess Sialic Acid. Am J Hum Genet. 1977; 29.
  • Vladutiu GD, Rattazzi MC. I-cell Disease: Impaired Fibroblast Uptake of Beta-Hexosaminidase is Not Due to Excess Sialic Acid. Pediatr Res. 1977; 11(4).
  • Vladutiu GD, Rattazzi MC. Abnormal Lysosomal Hydrolases Excreted by Cultured Fibroblasts and I-cell Disease. Am J Hum Genet. 1975; 27.
  • Therrien GD, Rose NR. Purification of Cathodal Esterase from Urine. Fed Proc. 1970; 29.
See all (32 more)
Books and Book Chapters:
  • Vladutiu AO, Vladutiu GD. "Isoenzymes". Encyclopedia of Molecular Biology and Molecular Medicine, Volume 3. 1996.
  • Vladutiu AO, Vladutiu GD. "Isoenzymes". Molecular Biology and Biotechnology, Volume 3. 1995.
  • Vladutiu AO, Vladutiu GD. "Isoenzymes". Encyclopedia of Human Biology, Volume 4. 1991.
  • Vladutiu GD. Biochemical Genetic Services Handbook. 1989.

Professional Memberships:
  • American Society of Human Genetics
  • Society for Pediatric Research
  • American Society for Biochemistry and Molecular Biology
  • American Society for Cell Biology
  • Society for Inherited Metabolic Disorders
  • Society for the Study of Inborn Errors of Metabolism
  • United Mitochondrial Disease Foundation
  • Mitchondrial Medicine Society
  • American Association of Clinical Chemists
Presentations:
  • "Genetic Susceptibility to Statin-induced Myopathy" Meeting, National Lipid Association (2013)
  • "Genetic Susceptibility to Statin-induced Myopathy" Molecular Pathology Seminar, Johns Hopkins University School of Medicine, Department of Pathology (2013)
  • "Genetics of Statin Myopathy" Think-Tank Meeting, Duke Clinical Research Institute (2013)
  • "Targeted Genetic Screening for Triggerable Muscle Diseases" Lecture, Sequenom, Inc. (2012)
  • "The Challenging Patient - Genotypic Features" Board Meeting, Kowa Advisory Board (2011)
  • "Genetic Susceptibility to Statin-induced Myopathy" Meeting, National Lipid Association (2011)
  • "Genetic Susceptibility to Statin-induced Myopathy of Think Twice Before Putting Statins in the Drinking Water" New York State Regional Cytogenetics Meeting, Roswell Park Cancer Institute (2010)
  • "Genetic Susceptibility to Statin-induced Myopathy" Neurology Grand Rounds, Buffalo General Hospital (2010)
  • "FDA Regulation of Laboratory Developed Tests" Public Meeting on Oversight of Laboratory Developed Testing, Food and Drug Administration/Center for Devices and Radiological Health (2010)
  • "Proficiency Testing for Mitochondrial Electron Transport Chain (ETC) Enzyme Assays Using C. Elegans" Annual Meeting, United Mitochondrial Disease Foundation (2010)
  • "Genetic Susceptibility to Statin-induced Myopathy" Grand Rounds, University of Pittsburgh Medical Center, Department of Neurology (2010)
  • "A Prospective Randomized Double-Blind and Placebo Controlled Phase II Trial - Effect of CoQ 10 on Statin-induced Mitochondrial Dysfunction" Annual Meeting, American Academy of Neurology (2010)
  • "Genetic Susceptibility to Statin-induced Myopathy" Annual Meeting, Malignant Hyperthermia Association of the United States (2010)
  • "Genetics in Practice" Advanced Biology Class, North Tonawanda High School (2010)
  • "The Contribution of Heterozygosity to Disease" Presidental Address, The Society for Inherited Metabolic Disorders (2010)
  • "Genetic Susceptibility to Statin-induced Myopathy" Pediatric Grand Rounds, Women and Children‘s Hospital of Buffalo (2009)
  • "Muscle Coenzyme Q10 Deficiency in Statin Myopathy" International Congress of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism (2009)
  • "Partial Carnitine Palmitoyl Transferase II Deficiency Caused by Mutations in the Gene for Very Long-Chain acyl-CoA Dehydrogenase" International Congress of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism (2009)
  • "Phenotype-Genotype Correlation in Carnitine Palmitoyl Transferase (CPT) II Deficiency: Implications for Newborn Screening" International Congress of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism (2009)
  • "Interesting Cases of Metabolic Myopathies: Clinical, Biochemical and Molecular Correlations" Lecture, Walter Reed Army Medical Center (2009)
  • "Interesting Cases of Metabolic Myopathies: Clinical, Biochemical and Molecular Correlations" Lecture, Uniformed Services University of the Health Sciences (2009)
  • "Genetic Susceptibility to Statin-induced Myopathy" Annual Meeting, American Association for Clinical Chemistry (2008)
  • "Genetic Susceptibility to Statin-induced Myopathy" Department of Medicine Meeting, Johns Hopkins University School of Medicine (2008)
  • "Modes of Inheritance of Neuromuscular Disorders" Department of Neurology Fellows and Residents Conference, Buffalo General Hospital (2008)
  • "Serendipity: An Important Link to Clinical Research" School of Public Health Meeting, Johns Hopkins University (2008)
  • "Interesting Metabolic Myopathy Cases: Clinical, Biochemical, Molecular Histopathologic Correlations" Department of Laboratory Medicine Meeting, University of Pennsylvania (2008)
  • "Muscle Disease Case Reports" Department of Laboratory Medicine Meeting, University of Pennsylvania (2008)
  • "Serendipity: Clinical Research and Statin-induced Myopathy" Grand Rounds, Buffalo General Hospital, Department of Neurology (2007)
  • "Experiences in Genetic Research" Pioneers of Science Research Day, Buffalo Museum of Science (2006)
  • "New Developments in Inborn Errors of Metabolism" Session Chair, Americal College of Medical Genetics (2006)
  • "Poliosis, Mitochondrial Deletion, Progressive External Opthalmoplegia" Annual Meeting, American Academy of Neurology (2005)
  • "Statin Myopathies: The Risk Associated with Cholesterol-lowering Drugs" Pediatric Grand Rounds, Women and Children‘s Hospital of Buffalo (2004)
  • "Interesting Case of Metabolic Myopathies" Pfizer-Sponsored Program Hosting Dr. Robert Wortmann, Children‘s Guild Building, Department of Pediatrics, Medicine, Pathology and Neurology (2004)
  • "The Relationship Between Metabolic and Muscle Diseases and Cholesterol-lowering Drugs" Annual Meeting, Society for Inherited Metabolic Diseases (2004)
  • "Underlying Metabolic Disease Among the Statin Myopathies" Neurology Grand Rounds, Buffalo General Hospital (2004)
  • "Investigation of the Triggerable Myopathies" Department of Chemistry Meeting, Children‘s Medical Center of Dallas (2002)
  • "The Laboratory Diagnosis of Mitochondrial Disease: A 17-Year Experience" Annual Meeting, United Mitochondrial Disease Foundation, Standards in the Diagnosis of Metabolic Disease Workshop (2002)
  • "The Laboratory Diagnosis of Mitochondrial Disease: A 17-Year Experience" Annual Meeting, Society for Inherited Metabolic Disease (2002)
  • "The Laboratory Diagnosis of Mitochondrial Disease: A 16-Year Experience" Euromit 5 (2001)
  • "Muscle Disease as Models of Complexity" Annual Meeting, Society for Pediatric Research (2001)
  • "Advances in Molecular Testing of Genetic Disease for Primary Care Physicians" Family Medicine Grand Rounds, Ramada Renaissance Hotel (2001)
  • "Complex Phenotypes and Genotypes Among the Triggerable Myopathies" 8th International Congress of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism (2000)
  • "The Laboratory Diagnosis of Mitochondrial Disease: A 15-Year Experience" Annual Meeting, United Mitochondrial Disease Foundation (2000)
  • "Molecular Testing for Genetic Diseases" Pediatric Grand Rounds, Women and Children‘s Hospital of Buffalo (2000)
  • "Patient with Phosphorylase B Kinase Deficiency" Pediatric Mortality Rounds, Women and Children‘s Hospital of Buffalo (2000)
  • "The Molecular Diagnosis of Metabolic Myopathies" Neurology Grand Rounds, Buffalo General Hospital (2000)
  • "The Biochemical Genetic Diagnosis of Disease" Neuroscience Seminar, Millard Fillmore Hospital, Department of Neurology (1999)
  • "Mutant Haplotypes and Biochemical Correlations in CPT II Deficiency" Annual Meeting, Society for Inherited Metabolic Disease (1999)
  • "Careers in Science for the Millennium" FASEB Visiting Scientist Lectureship, Barry University, MARC Program (1999)
  • "Clinical, Biochemical and Molecular Characterization of Carnitine Palmitoyltransferase Deficiency" FASEB Visiting Scientist Lectureship, Barry University, MARC Program (1999)
  • "Clinical, Biochemical and Molecular Characterization of Carnitine Palmitoyltransferase Deficiency" Department of Genetics Meeting, Yale University (1999)
  • "Interesting Cases of Mitochondrial Myopathies" Department of Genetics Meeting, Yale University (1999)
  • "A Mutation in Carnitine Palmitoyltransferase II Gene (CPT2) Confers Malignant Hyperthermia and Variable Myopathy" Buffalo-Hamilton Electromyography/Neuromuscular Society Meeting, American Association of Neuromuscular and Electrodiagnostic Medicine (1998)
  • "Biochemical, Molecular and Clinical Heterogeneity in Carnitine Palmitoyl Transferase II Deficiency" 2nd Albany Conference on Frontiers of Mitochondrial Research, New York State Department of Health: Wadsworth Center (1998)
  • "Clinical, Biochemical and Molecular Characterization of Carnitine Palmitoyltransferase Deficiency" Division of Genetics Meeting, Strong Memorial Hospital, Department of Pediatrics (1998)
  • "New Mutations in Carnitine Palmitoyl Transferase Deficiency" Annual Meeting, Society for Inherited Metabolic Disease (1998)
  • "Mitochondrial Disease Case Presentations and Mitochondrial Defects in Degenerative Diseases" Neuroscience Seminar, Millard Fillmore Hospital, Department of Neurology (1998)
  • "Mitochondrial Disease: Separating the Horses from the Zebras" Pediatric Grand Rounds, Women and Children‘s Hospital of Buffalo (1998)
  • "Mitochondrial Inheritance of Disease" Neuroscience Seminar, Millard Fillmore Hospital, Department of Neurology (1998)
  • "Clinical, Biochemical and Molecular Characterization of the Most Common Lipid Myopathy in Man" Neurology Grand Rounds, Buffalo General Hospital (1998)
  • "Clinical, Biochemical and Molecular Characterization of Carnitine Palmitoyltransferase Deficiency" Clinic Meeting, Mayo Clinic (1997)
  • "Clinical, Biochemical and Molecular Characterization of Carnitine Palmitoyltransferase Deficiency" School of Medicine Meeting, University of Minnesota (1997)
  • "Interesting Cases of Mitochondrial Disease" School of Medicine Meeting, University of Minnesota (1997)
  • "Interesting Cases of Mitochondrial Disease" Clinic Meeting, Mayo Clinic (1997)
  • "Clinical, Biochemical and Molecular Characterization of Carnitine Palmitoyltransferase Deficiency" Buffalo-Hamilton Electromyography/Neuromuscular Society Meeting, American Association of Neuromuscular and Electrodiagnostic Medicine (1997)
  • "Disorders of Oxidative Phosphorylation with an Impact on the Central Nervous System" The 1997 Rose and Al Pastor Lecture Series: Unlocking the Mysteries of the Brain, Women and Children‘s Hospital of Buffalo (1997)
  • "Mitochondrial Inheritance of Disease" Neurology Residents Conference, Millard Fillmore Hospital (1997)
  • "Undefined Metabolic Disease" Fetal Therapy Conference, Women and Children‘s Hospital of Buffalo (1997)
  • "CPT-Deficiency in a 40-Year Old Naval Officer" Neuropathology Conference, Erie County Medical Center (1997)
  • "Informational Databases as Diagnostic Tools for Inborn Errors of Metabolism" 7th International Congress of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism (1997)
  • "Advances in Mitochondrial and Neurodegenerative Diseases" Neuroscience Seminar Series, University at Buffalo, Department of Neurology (1997)
  • "Review of Clinical History, Histopathology, and Respiratory Chain Assays on a Series of 58 Patients Having Diagnostic Muscle Biopsy for Possible Oxidative Phosphorylation Defect" 1997 International Conference on Mitochondrial Diseases, United Mitochondrial Disease Foundation (1997)
  • "The Approach to a Common Lipid Myopathy" Research Seminar Series, Women and Children‘s Hospital of Buffalo, Department of Pediatrics (1997)
  • "Mitochondrial Inheritance of Disease" Department of Pathology Residents Conference, Buffalo General Hospital (1996)
  • "Association Between Structural Defects and Mitochondrial Enzyme Defects in Muscle" Buffalo-Hamilton Electromyography/Neuromuscular Society Meeting, American Association of Neuromuscular and Electrodiagnostic Medicine (1996)
  • "Mitochondrial DNA Deletion Disorders and Their Relationship to Degenerative Diseases and Aging" Neurology Grand Rounds, BuffaloGeneral Hospital (1996)
  • "Mitochondrial Inheritance of Disease" Neuroscience Seminar, University at Buffalo, Department of Neurology (1996)
  • "Newborn Screening" Department of Social and Preventive Medicine Meeting, University at Buffalo (1996)
  • "Careers in Medicine and Health-related Professions" Pre-Medical Society Meeting, University of Rochester (1995)
  • "Enzymatic Markers for Mitochondrial Content in Suspected Cases of Mitochondrial Myopathies" 6th International Congress of Inborn Errors of Metabolism, Society for the Study of Inborn Errors of Metabolism (1995)
  • "Interesting Cases of Metabolic Muscle Disease" Pediatric Grand Rounds, All Children‘s Hospital (1995)
  • "Understanding the Complexities of Mitochondrial Medicine" Pediatric Grand Rounds, Tampa General Hospital (1995)
  • "Succinate Dehydrogenase Deficiency in Twelve Patients with Mitochondrial Myopathies" Annual Meeting, Society for Inherited Metabolic Disease (1995)
  • "Newborn Screening" Department of Social and Preventive Medicine Meeting, University at Buffalo (1995)
  • "Understanding the Complexities of Mitochondrial Medicine" Neurology Grand Rounds, Buffalo General Hospital (1995)
  • "Mitochondrial Disease" Neuroscience Seminar, University at Buffalo, Department of Neurology (1994)
  • "Mitochondrial Myopathies Associated with Malignant Hyperthermia" Buffalo-Hamilton Electromyography/Neuromuscular Society Meeting, American Association of Neuromuscular and Electrodiagnostic Medicine (1993)
  • "Selected Cases of Mitochondrial Myopathies" Division of Metabolism Meeting, Children‘s Hospital of Philadelphia, Department of Pediatrics (1993)
  • "Newborn Screening and Clinical Aspects of PKU" Department of Social and Preventive Medicine Meeting, University at Buffalo (1993)
  • "Unusual Cases of Mitochondrial Myopathies" Neurology Grand Rounds, Buffalo General Hospital (1993)
  • "Interesting Cases of Metabolic Myopathies" Pediatric Grand Rounds, Women and Children‘s Hospital of Buffalo (1992)
  • "The MH Phenotype and Disease" Buffalo-Hamiton Electromyography/Neuromuscular Society Meeting, American Association of Neuromuscular and Electrodiagnostic Medicine (1992)
  • "Association of Carnitine Palmitoyl Transferase Deficiency with Malignant Hyperthermia" 2nd International Symposium on Clinical, Biochemical and Molecular Aspects of Fatty Acid Oxidation, International Society for the Study of Fatty Acids and Lipids (1991)
  • "Quantitation of Carnitine Palmitoyl Transferase in Muscle Using an Enzyme-linked Immunosorbent Assay" 25 Years of Immunoenzymatic Techniques: International Congress (1991)
  • "Selected Topics in Muscular Disease" Buffalo-Hamilton Electromyography/Neuromuscular Society Meeting, American Association of Neuromuscular and Electrodiagnostic Medicine (1991)
  • "Approach to Biochemical Diagnosis of Muscle Disease" Grand Rounds, Mercy Hospital of Buffalo (1991)
  • "Effective Treatment of Myoclonus with Vitamin C and K in Adult Onset Mitochondrial Myopathy" Annual Meeting, American Academy of Neurologists (1991)
  • "Two Types of Carnitine Palmitoyl Transferase Deficiency in Muscle" Annual Meeting, Society for Inherited Metabolic Disease (1991)
  • "Carnitine Palmitoyl Transferase Deficiency and Malignant Hyperthermia" VII International Congress of Neuromuscular Diseases, Research Group on Neuromuscular Diseases-World Federation of Neurology (RGNMD-WFN) (1990)
  • "Venous Insufficiency and Mitochondrial Myopathy" VII International Congress of Neuromuscular Diseases, Research Group on Neuromuscular Diseases-World Federation of Neurology (RGNMD-WFN) (1990)
  • "Carnitine Palmitoyl Transferase Deficiency and Malignant Hyperthermia: A Clinical and Laboratory Study" Annual Meeting, Society for Inherited Metabolic Disease (1989)
  • "Advances in the Diagnosis of Neuromuscular Disease" Lecture, West Seneca Developmental Center (1989)
  • "Advances in the Diagnosis of Neuromuscular Disease" Lecture, J.N. Adams Development Center (1988)
  • "Molecular Probes in Carrier Identification: Cystic Fibrosis and Neuromuscular Disease" Genetics Services Workshop, Buffalo Hilton Hotel, Health Professionals in Western New York (1987)
  • "The Role of Biochemical Analysis of Muscle in Diagnosis" Department of Neurology Meeting, University at Buffalo (1986)
  • "Correction of Abnormal Excretion of Beta-Hexosaminidase in I-cell Fibroblast Cultures by Monensin" International Symposium on Lysosomes and Lysosomal Storage Diseases, Lysosomal Disease Network (1979)
  • "Detection of Familial Hyperbetalipoproteinemia in Dried Cord Blood" International Symposium on Infant Nutrition, American Society for Clinical Nutrition, Inc./University at Buffalo (1979)
See all (97 more)
Service Activities:
  • Duke Clinical Research Institute: Statin Intolerance Think-Tank; Invited Participant (2013)
  • Malignant Hyperthermia Association of the United States (MHAUS); Board of Directors (2013–present)
  • North American Mitochondrial Disease Consortium: Diagnostic Criteria for Mitochondrial Disease Subcommittee; Chair (2011–present)
  • Myositis Foundation; Grant Reviewer (2010)
  • Society for Inherited Metabolic Disorders (SIMD); President (2009–2011)
  • CDC: Clinical Laboratoy Improvement Advisory Committee (CLIAC) - Biochemical Genetic Testing Workgroup; Committee Member (2009)
  • Swiss National Science Foundation; Grant Reviewer (2009)
  • Society for Inherited Metabolic Disorders (SIMD); President-Elect (2007–2009)
  • Society for Inherited Metabolic Disorders (SIMD); Program Chair (2006–2007)
  • Society for Inherited Metabolic Disorders (SIMD); Membership Chair (2004–2006)
  • National Institite of Child Health and Human Development: Special Emphasis Panel - ZHD1 MRG-C (DS); Disorders of mitochondrial energy metabolism.; Reviewer (2004)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Faculty Council Steering Committee; Committee Member (2003–present)
  • United Mitochondrial Disease Foundation: Research Oversight Committee; Committee Member (2001–2006)
  • Mitchondrial Medicine Society: Laboratory Methods Committee for the Diagnosis of Mitchondrial Disease; Chair (2001–2005)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Faculty Council; Committee Member (2001–2005)
  • American Board of Medical Genetics: Re-Certification Committee for Clinical Biochemical Genetics; Committee Member (2001–2002)
  • Society for Inherited Metabolic Disorders (SIMD); Board of Directors (2001–present)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Biomedical Sciences Career Day; Panel Member (2000)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Primary Care Genetics Faculty Program Development Team; Member (2000–2001)
  • Muscular Dystrophy Association; Grant Reviewer (2000–present)
  • The Spiral Notebook; Newsletter about carnitine palmitoyltransferase deficiency for patients and professionals.; Editor (1998–2001)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Ad Hoc Committee for Appointments and Promotions for Tenure Rank; Committee Member (1998–2001)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Pediatric Genetics Research; Director (1998–present)
  • United Mitochondrial Disease Foundation: Scientific Advisory Board; Member (1997–2005)
  • Metabolic Information Network (MIN): Scientific Advisory Board; Member (1997–2001)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Selection Committee for Muscular Dystrophy Association Postdoctoral Research; Honoring S. Mouchly Small, PhD; Committee Member (1997–2001)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Research Productivity Evaluation Committee; Committee Member (1997)
  • United Mitochondrial Disease Foundation: Research Grants Evaluation Committee; Grant Reviewer (1997–present)
  • Special Regional Tay-Sachs Disease and Gaucher Disease Carrier Screening Program; Administrator (1996)
  • Heritage Oak Foundation: Founders‘ Award Committee; Committee Member (1995)
  • Robert Guthrie Biochemical Genetics Distinguished Speaker Series; Coordinator (1995–present)
  • Society for Inherited Metabolic Disorders (SIMD): Policy Committee; Committee Member (1994–1995)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Faculty Council; Member (1993–1995)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Faculty Council - Biomedical Research Subcommittee; Committee Member (1993–1994)
  • Muscular Dystrophy Association: Telethon; Participant (1993)
  • American Board of Medical Genetics: Clinical Biochemical Genetics; Diplomate (1993–present)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Neuropathology Fellowship Program; Consultant (1993–present)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Medical Scientist Training Program (MSTP) Admissions Committee; Committee Member (1992–1998)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Pediatrics Genetics Case Conference; Coordinator (1992–1998)
  • National Field Trial Neonatal Screening Program for Duchenne and Becker Muscular Dystrophy; >1,200 babies were screened at Women and Children‘s Hospital of Buffalo.; Participant (1992)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Ad Hoc Committee for Appointments and Promotions; Committee Member (1992–present)
  • Women and Children‘s Hospital of Buffalo: Laboratory Marketing Subcommittee; Committee Member (1991–1994)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Neuromuscular Disease Subcommittee - Neuroscience Task Force; Committee Member (1990)
  • Women and Children‘s Hospital of Buffalo: Radiation Safety Committee; Committee Member (1989–2002)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Admissions Committee; Committee Member (1989–1998)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Search Committee for Division Chief of Human Genetics; Committee Member (1988–1989)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: University Neuromuscular Group; Member (1987–present)
  • University at Buffalo: Women‘s Liaison; Member (1986–1990)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Division Chiefs Committee; Committee Member (1986–1989)
  • University at Buffalo: Faculty Senate; Member (1985–1987)
  • Women and Children‘s Hospital of Buffalo: Laboratory Directors Committee; Committee Member (1984–2003)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Dean‘s Committee on Computer Assisted Instruction; Committee Member (1984–1986)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Ad Hoc Committee for Appointments and Promotions for Research Rank; Committee Member (1983–1990)
  • Women and Children‘s Hospital of Buffalo: Institutional Review Board; Committee Member (1983–1985)
  • Women and Children‘s Hospital of Buffalo: Biomedical Research Support Committee; Committee Member (1982–1989)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Research Coordination Steering Committee; Committee Member (1980–1984)
  • University at Buffalo Jacobs School of Medicine and Biomedical Sciences: Pediatrics Research Seminar Series; Coordinator (1978–1984)
  • Americal Journal of Human Genetics; Reviewer
  • American Journal of Medical Genetics; Reviewer
  • Circulation Research Journal; Reviewer
  • Clinical Chemistry Journal; Reviewer
  • Clinical Genetics Journal; Reviewer
  • Expert Opinion on Medical Diagnostics; Reviewer
  • Human Mutation Journal; Reviewer
  • Journal of Biological Chemistry; Reviewer
  • Journal of Neurology; Reviewer
  • Journal of Pediatric Research; Reviewer
  • Muscle and Nerve Journal; Reviewer
  • New England Journal of Medicine; Reviewer
  • Pediatrics (Journal of the American Academy of Pediatrics); Reviewer

School News:
In the Media:

Clinical Specialties:
Clinical Offices:
Insurance Accepted:


Contact Information

Buffalo General Medical Center
100 High Street
Buffalo, NY 14203
Phone: (716) 859-7741
Fax: (716) 859-7749
Email: gdv@buffalo.edu


Log in to Update Your Profile