Mitochondrial Standards Workshop

Organizing Committee

Robert K. Naviaux, MD, PhD—Program Chair

University of California, San Diego School of Medicine

Barbara C. Levin, PhD

National Institute of Standards and Technology (NIST), Gaithersburg, MD

Keshav Singh, PhD

Johns Hopkins University, Baltimore, MD

Georgirene D. Vladutiu, PhD

University  at Buffalo, School of Medicine and Biomedical Sciences,  Children's Hospital of Buffalo, NY

Program

8 AM

Robert K. Naviaux, MD, PhD, University of California, San Diego School of Medicine, San Diego, CA
Welcoming Remarks, The Laboratory Methods Task Force

8:10

Georgirene D. Vladutiu, PhD, University at Buffalo, School of Medicine and Biomedical Sciences, Children's Hospital of Buffalo, NY
Current Challenges in the Laboratory Diagnosis of Mitochondrial Disease

8:40

David Thorburn, PhD, Murdoch Childrens Research Institute, Melbourne, Australia
Respiratory Chain Analysis in Skeletal Muscle and Liver, with Comments on the Fresh versus Frozen Debate

9:10

Bert van den Heuvel, PhD, University Medical Center, Nijmegen, Netherlands
Respiratory Chain Analysis in Fibroblasts

9:40

Charles Hoppel, MD, Case Western Reserve School of Medicine, Cleveland, OH
Isolation Methods, Respiratory Chain Analysis, and the Role of Polarography

10-10:30

Break

Immunodiagnosis and DNA Analysis—Moderator:  Dr. Zeviani

10:30

Rod Capaldi, PhD, University of Oregon, Eugene, OR
Antibody Based Methods for the Detection of Mitochondrial Diseases

10:50

Michael Marusich, PhD, University of Oregon, Eugene, OR
Combining Immunocapture and Catalytic Methods for Mitochondrial Disease Diagnosis

11:10

Lee-Jun C. Wong, PhD, Georgetown University Medical Center, Washington, DC
Methods of Mutational Analysis of Mitochondrial DNA

11:25

Catherine D. O'Connell, PhD, National Institutes of Standards and Technology, Gaithersburg, MD
Mitochondrial DNA Mutational Analysis in Lung Cancer

11:40

Jacques Leibowitch, MD, Hôpital Raymond Poincaré, Garches, France
Real-time PCR Analysis of mtDNA Depletion Associated with Highly Active Anti-Retroviral Therapies for AIDS

11:55

Barbara C. Levin, PhD, National Institute of Standards and Technology, Gaithersburg, MD
A new approach and Standard Reference Materials for Diagnosis of Mitochondrial Disease

12:10

Massimo Zeviani, MD, Istituto Nazionale Neurologico "C. Besta", Milan, Italy
The Growing List of Nuclear Gene Targets for Mitochondrial Disease Diagnosis

12:30-1:30

Lunch

Pathology and Neuroimaging—Moderator:  Dr. Bonilla

1:30

Eduardo Bonilla, MD, Columbia University College of Physicians and Surgeons, New York, NY
Morphology and Histopathological Methods for the Diagnosis of Mitochondrial Disease

2:00

Hannes Vogel, MD, Stanford University School of Medicine, Palo Alto, CA
Neuropathological Features of Mitochondrial Disease and the Developing Role of the Neuropathologist

2:30

Robert Zimmerman, MD, Children’s Hospital of Philadelphia, PA
Developing Scales and Defining the Role of Neuroimaging in Mitochondrial Disease Diagnosis

3:00

Fernando Arias-Mendoza, MD, PhD, Columbia-Presbyterian Medical Center, New York, NY
Proton and Phosphorus MR Spectroscopy in the Diagnosis and Follow-Up of Mitochondrial Disease

3:30-4:00

Coffee Break

Non-Respiratory Chain Biochemistry and Panel Discussion—Moderator:  Dr. Vladutiu

4:00

Bruce Barshop, MD, PhD, University of California, San Diego School of Medicine, San Diego, CA
The Role of the Biochemical Genetics Laboratory in Mitochondrial Disease Diagnosis

4:30

Piero Rinaldo, MD, PhD, Mayo Clinic, Rochester, MN
Biochemical Evaluation and the Differential Diagnosis of Mitochondrial Disease

5:00

Georgirene D. Vladutiu, PhD—Developing a Sample Exchange Program, Summary of Committee Recommendations

5:15

Panel Discussants and Committee Chairs (7)—Questions From The Floor

1.               Task Force Chair—Dr. Vladutiu

2.               Respiratory Chain—Dr. Thorburn

3.               Immunodiagnosis—Dr. Capaldi

4.               DNA Analysis—Dr. Zeviani

5.               Pathology—Dr. Bonilla

6.               Neuroimaging—Dr. Zimmerman

7.               Non-RC Biochemistry—Dr. Barshop

6:00

Adjourn

6:15

Faculty Photograph

6:30-9:30

“Cool River” Restaurant—group transportation provided at 6:30 and 7:00 p.m. (self-pay cocktails and dinner)