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  • Mendel Tuchman, MD | OAA
    Research Support Our Organizations Fundraising Contact Us OA Disorders Home Links Memorials Informational Websites Nutrition Links Education Resources Newborn Screening About Us Board of Directors Medical Advisors Mendel Tuchman MD Dr Tuchman s Biographical Sketch Mendel Tuchman MD is the Vice Chairman for Research Scientific Director Children s Research Institute and Professor of Pediatrics Biochemistry Molecular Biology at Children s National Medical Center in Washington DC He is also the

    Original URL path: http://www.oaanews.org/MendelTuchmanMD.htm (2012-10-25)
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  • Keiko Ueda, MPH, RD, LDN | OAA
    MI I will always be grateful to Dr Richard Allen and Mrs Anna Marie Schaefer MPH RD for offering and training me in my first real job as a Metabolic Dietitian at the Pediatric Neurology clinic at the University of Michigan in Ann Arbor MI I then worked for 4 years in the Medical Genetics clinic at Washington University School of Medicine at St Louis Children s Hospital in St

    Original URL path: http://www.oaanews.org/Keikobio.htm (2012-10-25)
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  • Carla Cuthbert, PhD, FACMG, FCCMG | OAA
    activities include proficiency testing development of quality control and reference blood spot materials filter paper evaluation training and consultation The mission of the Newborn Screening Translation Research Initiative NSTRI is to assure that the translation of research methods into routine laboratory tests for newborn screening leads to sustainable high quality testing and healthier babies worldwide Its activities include development of new screening methods for specific diseases eg LSDs and SCID and integrating State Public Health Laboratories into the translation process through collaborative field studies eg SCID pilot programs with Wisconsin and Massachusetts The Newborn Screening Molecular Biology Team functions to facilitate and enhance newborn screening through molecular testing Its activities include collaboration with screening laboratories for method development technology transfer and providing expertise Prior to her work at the CDC Dr Cuthbert was a Biochemical Genetics Laboratory Director at the University of Miami overseeing all aspects of laboratory management and reporting providing consultation for physicians staff and other healthcare professionals for patients with inborn errors or metabolism She also has a strong interest in education and was the instructor for the ABMG General Genetics Review and the Clinical Biochemical Genetics Review courses offered to Medical Genetics Fellows and Residents at

    Original URL path: http://www.oaanews.org/CarlaCuthbert.htm (2012-10-25)
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  • Charles P. Venditti, MD | OAA
    Screening About Us Board of Directors Medical Advisors Charles P Venditti MD Dr Venditti is an Investigator in the National Human Genome Research Institute and the Director of the Organic Acid Research Unit at the National Institutes of Health in Bethesda MD He received his BS from MIT in 1988 and was an MD PhD scholarship recipient at Penn State University between 1989 1996 After graduation he completed a pediatrics residency at Massachusetts General Hospital Harvard Medical School 1996 1999 and a human genetics fellowship at the Children s Hospital of Philadelphia University of Pennsylvania School of Medicine 1999 2003 He is board certified in pediatrics clinical and biochemical genetics and is an Attending Physician at the Mark O Hatfield Clinical Center at the NIH where he has initiated a translational research program to study the natural history and clinical phenotype s of the hereditary methylmalonic acidemias MMA The laboratory investigations use genetic genomic and biochemical approaches to examine organic acid metabolism in experimental animals including yeast roundworms and mice The goals of the research are to create manipulate and study model organism systems that can then be used to evaluate therapies for MMA to examine and characterize genetic determinants

    Original URL path: http://www.oaanews.org/Vendittibio.htm (2012-10-25)
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  • Elaina Jurecki, MS, RD | OAA
    Screening About Us Board of Directors Medical Advisors Elaina Jurecki MS RD I received my Bachelor s Degree in Biochemistry at the University of Pennsylvania and my Master s Degree in Nutritional Science from Michigan State University I completed a 1 year dietetic internship at the University of California San Francisco Medical Center and continued on working there for five years in the Genetics Department coordinating care for children with Inborn Errors of Metabolism I also worked in the hospital on the pediatric ward and in the pediatric intensive care unit I then was recruited to come work for Kaiser as a Metabolic Nutrition Coordinator for the Northern California Kaisers I took a three year break moving to Southern California where I worked at Long Beach Memorial Hospital providing nutritional care for pediatric patients in the clinics for genetics inborn errors endocrine and GI This provided me a good opportunity to see how Medical Centers outside of Kaiser manages pediatric patients with chronic disease I returned to Northern California Kaiser in fall 2001 and resumed my position as a Regional Metabolic Nutrition Coordinator in the Genetics Department I am very interested in pediatric nutrition and in biochemistry and in the

    Original URL path: http://www.oaanews.org/Elainabio.htm (2012-10-25)
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  • Jerry Vockley, MD, PhD | OAA
    Health Science Center and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven Connecticut Before assuming his current position in Pittsburgh Dr Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine Dr Vockley is internationally recognized as a leader in the field of inborn errors of metabolism His lab has been responsible for identifying 8 new disorders since the year 2000 many of them defects in mitochondrial energy metabolism and he has published over 100 scientific articles in peer review journals His current research focuses on the molecular architecture of mitochondrial energy metabolism in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes obesity and Alzheimer disease Dr Vockley serves on numerous national and international scientific boards including the Advisory Committee to the Secretary of Health and Human Services on Heritable Disorders in Newborns and Children where he is chair of the technology committee He also serves as chair of the Pennsylvania State Newborn Screening Advisory Committee He is a past president of the International Organizing Committee for the International Congress on Inborn Errors of

    Original URL path: http://www.oaanews.org/JerryVockley.htm (2012-10-25)
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  • Dr. Stephen Kahler, MD | OAA
    but he has always had strong affiliations with research physicians and scientists He worked at Duke from 1983 1997 in the division of Genetics and Metabolism directed by Dr Roe He was part of the team there that developed what is now called expanded newborn screening with funding obtained from the state of North Carolina He moved to Melbourne Australia to direct the Victorian Clinical Genetic Services in 1998 returned

    Original URL path: http://www.oaanews.org/StephenKahler.htm (2012-10-25)
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  • Piero Rinaldo, MD, PhD | OAA
    Kay Tanaka by many considered the pioneer and father of the Organic Acidemias Since 1998 he is the Director of the Biochemical Genetics Laboratory in the Division of Laboratory Genetics Department of Laboratory Medicine and Pathology at the Mayo Clinic in Rochester MN Dr Rinaldo is a Professor of Laboratory Medicine Chair of the Division of Laboratory Genetics and holds joint appointments in the Departments of Pediatrics and Medical Genetics

    Original URL path: http://www.oaanews.org/Pierobio.htm (2012-10-25)
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