Mitochondrial Disease

Oversight Committee Members

• Michio Hirano, MD
  Columbia University Medical Center, New York, New York
  Co-Chair
• Lynne A. Wolfe, MS, PNP, BC
  National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
  Co-Chair
• Marni Falk, MD
  The Children's Hospital of Philadelphia, Philadelphia, Pennslyvania
• Danuta Krotoski, PhD
  National Institutes of Health, Bethesda, Maryland
• Russel Saneto, DO, PhD
  Seattle Children's Hospital, Seattle, Washington
• John Shoffner, MD
  Atlanta, Georgia
• Johan Van Hove, MD, PhD, MBA
  University of Colorado, Aurora, Colorado
• Jerry Vockley, MD, PhD
  University of Pittsburgh, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
• Philip Yeske, PhD
  United Mitochondrial Disease Foundation, Pittsburgh, Pennsylvania

Biomarkers Working Group

• John Shoffner, MD
  Atlanta, Georgia
  Chair
• Mark Bamberger, PhD
  Stealth Peptides, Inc, Newton, Massachusetts
• Yasutoshi Koga, MD, PhD
  Kurume University, Fukuoka-ken, Japan
• Anne Lombès, MD, PhD
  INSERM, Paris, France
• Fernando Scaglia, MD
  Baylor College of Medicine, Houston, Texas

Cognitive/Behavioral/Psychological Outcomes Working Group

• Lisa Emrick, MD
  Baylor College of Medicine, Houston, Texas
  Chair
• Rebecca Vaurio, PhD
  Kennedy Krieger Institute, Baltimore, Maryland

Endocrinology/Diabetes/GI/Nutrition Working Group

• Shana McCormack, MD
  Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  Chair
• Jose E. Abdenur, MD
  Children's Hospital of Orange County, Orange, California
• Bret Goodpaster, PhD
  Sanford Burnham Prebys Medical Discovery Instititute, Orlando, Florida
• Robert O. Heuckeroth, MD, PhD
  Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
• Robert McFarland, DoH, HEFCE
  Newcastle University, Newcastle upon Tyne, United Kingdom
• Philip Morgan, MD
  Mitochondrial Research Guild, Seattle, Washington
• Fernando Scaglia, MD
  Baylor College of Medicine, Houston, Texas
• Charles A. Stanley, MD
  Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
• Steven M. Willi, MD
  Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania

Exercise Physiology Working Group

• Tanja Taivassalo, PhD
  McGill University, Montreal, Canada
  Chair
• Amy Goldstein, MD
  Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania
• Ronald Haller, MD
  Southwestern Medical Center, Dallas, Texas
• Mark Tarnopolsky, MD, PhD
  McMaster University, Hamilton, Ontario, Canada
• Karim Wahbi, MD, PhD
  Institute of Myology, Paris, France

Genetics Working Group

• David Dimmock, MD
  Medical College of Wisconsin, Milwaukee, Wisconsin
  Co-Chair
• Marn J. Falk, MD
  Children?s Hospital of Philadelphia, Philadelphia, Pennsylvania
  Co-Chair
• Xiaowu Gai, PhD
  Ocular Genomics Institute, Boston, Massachusetts
• Michio Hirano, MD
  Columbia University Medical Center, New York, New York
• Anne Lombès, MD, PhD
  INSERM, Paris, France
• Shamima Rahman, PhD, FRCP(C), FRCPCH
  UCL Institute of Child Health, London, United Kingdom
• Fernando Scaglia, MD
  Baylor College of Medicine, Houston, Texas
• Curt Scharfe, MD, PhD
  Stanford University School of Medicine, Stanford, California
• David Thorburn, PhD, FHGSA, FFSC (RCPA)
  Murdoch Children's Research Institute, Victoria, Australia
• Stephan Züchner, MD, PhD
  Dr. John T. Macdonald Foundation, Miami, Florida

Imaging Working Group

• David M. Mirsky, MD
  Children's Hospital Colorado, Aurora, Colorado
  Chair
• Abigail Collins, MD
  Children's Hospital Colorado, Aurora, Colorado
• Andrea L. Gropman, MD
  Children's National Medical Center, Washington, District of Columbia
• Edward Yang, MD
  Boston Children's Hospital, Boston, Massachusetts

Neurological Assessments Working Group

• Bruce Cohen, MD, FAAN
  Akron Children's Hospital, Akron, Ohio
  Co-Chair
• Ingrid Tein, MD, FRCP
  University of Toronto, Toronto, Canada
  Co-Chair
• Laurence Bindoff, MD, PhD
  University of Bergen, Bergen, Norway
• Michio Hirano, MD
  Columbia University Medical Center, New York, New York
• Matthew Klein, MD, MS, FACS
  Edison Pharmaceuticals, Mountain View, California
• Thomas Klopstock, MD
  Ludwig Maximilian University of Munich, Munchen, Germany
• Saskia Koene, MD
  Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
• Pascal Lafor?t, MD, PhD
  Assistance Publique-H?pitaux de Paris, Paris, France
• Margherita Milone, MD, PhD
  Mayo School of Graduate Medical Education, Rochester, Minnesota
• Jan Smeitink, MD, PhD
  Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Patient Reported Outcomes/QOL Working Group

• Mary Kay Koenig, MD
  University of Texas Health Science Center, Houston, Texas
  Co-Chair
• Sumit Parikh, MD
  Cleveland Clinic, Cleveland, Ohio
  Co-Chair
• Cristy Balcells, RN, MSN
  Mito Action, Medford, Massachusetts
• Michio Hirano, MD
  Columbia University Medical Center, New York, New York
• Amel Karaa, MD
  Massachusetts General Hospital, Boston, Massachusetts
• Robert McFarland, DoH, HEFCE
  Newcastle University, Newcastle upon Tyne, United Kingdom
• Russel Saneto, DO, PhD
  Seattle Children's Hospital, Seattle, Washington
• Peter W. Stacpoole, MD, PhD
  University of Florida, Gainesville, Florida
• Philip Yeske, PhD
  United Mitochondrial Disease Foundation, Pittsburgh, Pennsylvania

Vision Working Group

• Patrick Yu-Wai-Man, MBBS, PhD, FRCOphth
  Newcastle University, Newcastle upon Tyne, United Kingdom
  Chair
• Piero Barboni, MD
  University of Bologna, Bologna, Italy
• Valerio Carelli, MD, PhD
  University of Bologna School of Medicine, Bologna, Italy
• Patrick Chinnery, PhD, MRCPath, MRCP
  Newcastle University, Newcastle upon Tyne, United Kingdom
• Graham E. Holder, PhD
  Moorfields Eye Hospital, London, United Kingdom
• John L. Keltner, MD
  UC Davis School of Medicine, Sacramento, California
• Tony Moore, MA, FRCS, FCROphth, FMedSci
  Moorfields Eye Hospital, London, United Kingdom
• Alfredo A. Sadun, MD, PhD
  University of California Los Angeles, Los Angeles, California
• Claire Sheldon, MD, PhD
  University of Pennsylvania, Philadelphia, Pennsylvania
• Marcela Votruba, PhD, FRCOphth
  Cardiff University, Cardiff, United Kingdom

NIH Coordinating Team

• Vernon Anderson, PhD
  National Institute of General Medical Sciences (NIGMS), National Institutes of Health (NIH), Bethesda, Maryland
• Kathryn Camp MS, RD, CSP
  National Institutes of Health (NIH), Bethesda, Maryand
• William C. Copeland, PhD
  National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Research Triangle Park, North Carolina
• Kerry Goetz, MS
  National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, Maryland
• Katrina A. Gwinn, MD
  National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
• Adam Hartman, MD, FAAP, FANA, FAES
  National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
• Petra Kaufmann, MD, MSc
  National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
• Danuta Krotoski, PhD
  National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland
• Elizabeth McNeil, MD, MSc
  National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
• M. Carolina Mendoza-Puccini, MD
  National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
• Joanne Odenkirchen, MPH
  NINDS CDE Project Officer, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland
• Lynne A. Wolfe, MS, PNP, BC
  National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland
• Steven Zullo, PhD
  National Institute of Biomedical Imaging and Bioengineering (NIBIB), National Institutes of Health (NIH), Bethesda, Maryland

NINDS CDE Team

• Muniza Sheikh, MS,MBA
  The Emmes Corporation
• Joy Esterlitz, MS
  The Emmes Corporation
• Ilar Edun, BA
  The Emmes Corporation
• Sherita Ala'i Hansen, MS
  The Emmes Corporation
• Elias R. Feldman
  The Emmes Corporation
• Robin Feldman, BS, MBA
  The Emmes Corporation
• Ayanna Garland
  The Emmes Corporation
• Marybeth Montoro, MPH, CPH
  The Emmes Corporation
• Divya Nigam, BS
  The Emmes Corporation
• Amanda Suller, BS
  The Emmes Corporation