Invited Speakers: William J. Bank, M.D.
Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA
"Near infrared spectroscopy in the diagnosis of mitochondrial myopathies:
Eduardo Bonilla, M.D.
Houston Merritt Clinical Research Center for Muscular Dystrophy & Related Disorders
Department of Neurology, Columbia-Presbyterian Medical Center, Columbia University
New York, NY
"Ultrastructural alterations in encephalomyopathies of mitochondrial origin"
Britton Chance, Ph.D.
Johnson Research Foundation, Department of Biochemistry and Biophysics
University of Pennsylvania, Philadelphia, PA
"Overview of non-invasive techniques in the diagnosis of encephalomyopathies"
Harry T. Chugani, M.D.
Department of Pediatrics, Neurology and Radiology, Wayne State University
School of Medicine, Children's Hospital of Michigan, Detroit, MI
"Position emmission tomography in mitochondrial diseases"
David Clayton, Ph.D.
Department of Developmental Biology, Stanford University, Stanford, CA
"Intergenomic communicatio"
Paul Coates, Ph.D.
NIDDK, National Institutes of Health, Bethesda, MD
"Fatty acid transport and metabolism in mitochondrial defects and genetics"
Daryl DeVivo, M.D.
Neurological Institute, Columbia-Presbyterian Medical Center, Columbia University
New York, NY
"Historical perspective and clinical variation in Leigh Syndrome"
Salvtore DiMauro, M.D.
Houston Merritt Clinical Research Center for Muscular Dystrophy & Related Disorders
Department of Neurology, Columbia-Presbyterian Medical Center, Columbia University
New York, NY
"From genotype to phenotype"
Lars Ernster, Ph.D.
Department of Biochemistry, Arrhenius Laboratories for Natural Sciences
Stockholm University, Stockholm, Sweden
"Introduction and perspective on mitochondrial cytopathies"
Wayne A. Fenton, Ph.D.
Department of Genetics, Howard Hughes Medical Institute,
Yale University School of Medicine, New Haven, CT
"Transfer of nuclear proteins to mitochondia"
Richard Haas, M.D.
UCSD Medical Center, Department of Pediatric Neurology
La Jolla, CA
"Diet change in the management of metabolic encephalomyopathies"
Bernhard Kadenbach, M.D.
Fachbereich Chemie, Biochemie, Hans Meerwain Strabe, Phillips-Universitat
Marburg, West Germany
"Biochemical defects and genetic abnormalities"
Nicholas Krawiecki, M.D.
Departments of Neurology and Pediatrics, Emory University, Atlanta, GA
"Diagnosis of mitochonrial disorders"
Wolfgang S. Kunz, M.D.
Institute of Biochemie, Klinik fur Neurologie and Psychiatric Medizinsche Academie
Magdeburg, Magdeburg, Germany
"Use of saponin permabilized muscle fibers to diagnose mitochondrial cytopathies"
C. Dean Kurth, M.D.
Department of Anethesiology and Critical Care Medicine, Children's Hospital of
Philadelphia, Philadelphia, PA
"Problems in quantitative near infrared spectroscopy"
Chuan Pu Lee, Ph.D.
Department of Biochemistry, Wayne State University, Detroit, MI
"Use of coupled mitochondria and tissue homogenates to diagnose mitochondrial
cytopathies"
Arnold Munnich, M.D., Ph.D.
Unite de Reserches sur les Handicaps Genetiques de l'Enfant, Istitut Necker,
Hospital des Enfant Malades, Paris, France
"Nuclear DNA defects in mitochondrial disorders"
Lester Packer, Ph.D.
Membrane Bioenergetics Group, Department of Molecular and Cell Biology,
University of California at Berkeley, Berkeley, CA
"Antioxidant regulation of gene transcription"
Jane H. Park, M.D.
Nuclear Resonance Unit, Baylor College of Medicine, Houston, TX
"Combination of near infrared spectroscopy and magnetic resonance in the diagnosis of
mitochondrial myopathies"
George K. Radda, D.Phil.
MRC Biochemical and Clinical Magnetic Resonance Unit, University of Oxford,
Oxford, United Kingdom
"Analytical and image magnetic resonance of hydrogen and phosphorus"
Christopher Richter, Ph.D.
Laboratorium fur Biochemie I, Swiss Fderal Institute of Technology, Zurich, Switzerland
"Mitochondrial DNA repair and free radical damage"
Brian H. Robinson, Ph.D.
Division of Genetic Metabolic Diseases, The Hospital for Sck Children,
University of Toronto, Toronto, Canada
"Diagnosis of mitochondrial energy metabolism defects in tissue culture"
Eric A. Schon, Ph.D.
Houston Merritt Clinical Research Center for Muscular Dystrophy & Related Disorders,
Department of Neurology, Columbia-Presbyterian Medical Center, Columbia University,
New York, NY
"Primary disorders of mitochondrial DNA"
Erik A. Shoubridge, Ph.D.
Montreal Neurological Institute, McGill University, Montreal, Canada
"Biochemiacl adaptation in mitochondrial diseases"
J.M.F. Trijbels, M.D.
Department of Pediatics, University Hospital Nijemegen, Nijemegen, The Netherlands
"The use of redox agents and antioxidants to treat mitochondrial disorders"
Douglas C. Wallace, Ph.D.
Department of Genetics and Molecular Medicine, Emory University School of Medicine,
Atlanta, Georgia
"Introduction and perspective on mitochondrial genetics"
Program:
APRIL 4th, 1997
TOPICS SPEAKERS
MITOCHONDRIAL GENETICS:
Introduction and Perspective D.Wallace
Primary disorders of mitochondrial DNA E.Schon
Nuclear DNA defects in mitochondrial disorders A.Munnich
Transfer of nuclear proteins to mitochondria W.Fenton
Fatty acid transport & metabolism in mitochondrial defects and genetics P.Coates
Intergenomic communication D.Clayton
Mitochondrial DNA repair and free radical damage Ch.Richter
DIAGNOSIS OF MITOCHONDRIAL CYTOPATHIES:
A) Biochemistry I
Introduction and perspective L.Ernster
Isolated coupled mitochondria versus homogenates C.P.Lee
Saponin permeabilized muscle fibers W.Kunz
B) Biochemistry II
Disturbances in mitochondrial transport systems leading to encephalomyopathies
T.M.F.Trijbels
The diagnosis of mitochondrial energy metabolism defects in tissue culture
B.H.Robinson
Ultrastructural alterations in encephalomyopathies of mitochondrial origin
E.Bonilla
APRIL 5th, 1997
"NON INVASIVE" TECHNIQUES IN THE DIAGNOSIS OF ENCEPHALOMYOPATHIES:
Introduction: Overview of non invasive approaches B.Chance
Near Infrared Spectroscopy (NIRS) in the diagnosis of mitochondrial miopathies
W.Banks
Problems in quantitative N.I.R. spectroscopy C.Dean Kurth
Analytical and Image Magnetic Resonance of hydrogen and phosphorus G.K.Radda
Combination NIRS and MR in the diagnosis of mitochondrial myopathies J.Harding Park
Positive Emission Tomography in mitochondrial diseases H.Chugani
THERAPY OF MITOCHONDRILA DISEASES:
Biochemical adaptation in mitochondrial diseases E.Shoubridge
Diet change in the management of metabolic encephalomyopathies R.Haas
Redox agents and antioxidants J.M.F.Trijbels
LEIGH SYNDROME CONFERENCE:
Historical perspective and clinical variations D.DeVivo
Biochemical defects and genetic abnormalities B.Kadenbach
From genotype to phenotype S.DiMauro
POSTER PRESENTATIONS PARENTS CONFERENCE
FOR COMPLETE INFORMATION (brochure) CONTACT:
our website: http://www.allegheny.edu/hospitals/barnett/barnett.html
or our email address: selak@allegheny.edu
FAX 215-427-4393 Phone 215-427-5483
Department of Neurology, St.Christopher's Hospital for Children
Erie Avenue at Front Street, Philadelphia, PA, 19134-1095, USA
Registration :
Professional Registration Fees:
Professional: $375 per person
Professional in training: $275 per person
Fees include admission, conference materials, continental breakfasts, coffee breaks,
luncheons and Saturday evening banquet. Deadline: March 4, 1997
Family registration fee is from $25-$150 per person,according to need
Obtain the brochure for full details and the official registration form
Deadline for Abstracts: February 15, 1997
Email for Requests and Registration: selak@allegheny.edu