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Myotubular and Centronuclear Myopathy Patient Registry

Our Steering Committee

The MTM and CNM Patient Registry Steering Committee comprises a mixture of clinical and research expertise, as well as representation from patients and patient organisations. Collectively, the committee are responsible for:

  • Reviewing and voting on requests to use registry data (called ‘enquiries’), to ensure they are appropriate, ethically approved, and in-line with registry objectives and remit.
  • Advising on strategic direction, opportunities and priorities for the registry.
  • Providing input and guidance where requested on publications, posters, presentations or other materials.
  • Reviewing reports and proposals for registry projects.
  • Ensuring the registry is well governed and promoting it where appropriate.

If you have any questions about the steering committee please contact the Registry Curators Julie Bohill or Jess Page.

Kimberly Amburgey

Genetic Counselor & Clinical Research Coordinator – Hospital for Sick Children, Toronto
Canada

Carsten Bönnemann

Senior Investigator and Chief of the Neuromuscular and Neurogenetic Disorders of Childhood Section – National Institute of Neurological Disorders and Stroke (NINDS)
United States of America

Ana Buj Bello (Co-Chair)

Senior Scientist in Neuromuscular Disorders and Gene Therapy – INSERM, Genethon
France

Aart den Hollander

Patient Representative – ZNM – Zusammen Stark! e.V.
Netherlands
 

James Dowling (Co-Chair)

Staff Clinician in the Division of Neurology and Senior Scientist in Genetics and Genome Biology – Hospital for Sick Children, Toronto
Canada

Robert J. Graham

Senior Associate in Division of Critical Care Medicine, Director of Critical Care, Anesthesia, Perioperative Extension (CAPE) and Home Ventilation Program, Associate Professor – Boston Children’s Hospital and Harvard Medical School
United States of America

Heinz Jungbluth

Consultant in Paediatric Neurology and Senior Lecturer – Guy’s and St Thomas’ NHS Trust and King’s College London
United Kingdom

Anne Lennox

Chief Executive and Parent Trustee – Myotubular Trust
United Kingdom

Orla Lynch

Independent Patient Representative
Ireland

Chiara Marini Bettolo (Principal Investigator)

Clinical Lead, Consultant Neurologist, and Clinical Lead of the Highly Specialised Service for Limb-girdle muscular dystrophies – John Walton Muscular Dystrophy Research Centre and Newcastle Hospitals NHS Foundation Trust
United Kingdom

Dionne Moat

Clinical Specialist Neuromuscular Physiotherapist – John Walton Muscular Dystrophy Research Centre at Newcastle University, and Newcastle Upon Tyne Hospitals NHS Foundation Trust
United Kingdom

Claudia Saegert

Independent Patient Representative
Germany
 

Ulrike Schara-Schmidt

Professor for Paediatric Neurology and Neuromuscular Diseases – Children’s Hospital of the University Hospital Essen
Germany