Download the scientific report of the 2013 UK Scientific Workshop on Krabbe Disease



Written on Tuesday 17 June 2014

Last October was held the UK Scientific Workshop on Krabbe Disease organized by Save Babies Through Screening Foundation UK and gathering several international experts on Krabbe Disease.

You can download the report of the meeting here

 

 

 

 

The following topics were covered during the meeting:

  • A Family Perspective of Krabbe disease by Ms Sarah Dudko, Trustee of Save Babies UK
  • Krabbe Disease: an overview, with special reference to chemical pathology by Dr Marie T Vanier, INSERM and Hôpitaux de Lyon, Lyon, France
  • Krabbe disease in infancy and later in life – Clinical and diagnostic aspects among the leukodystrophies, with some remarks on management by Prof. Alfried Kohlschuetter, University Medical Centre Eppendorf, Hamburg, Germany
  • Diagnosis of Krabbes Disease, genetic mutations, treatment trials in animal models and current research and viral Gene therapy" class="glossy" title="Procedure involving the insertion of a normal gene into an organism in order to achieve a therapeutic objective. This gene (transgene) can be the normal version of a defective gene causing disease or a gene that produces a protein with any therapeutic action." >gene therapy trials in the dog model by Prof David Wenger, Thomas Jefferson University, Philadelphia USA
  • Six Years of Screening for Krabbe Disease in New York State by Dr Joseph Orsini, New York State Department of Health, Wadsworth Centre, Albany, USA
  • Predicting Krabbe Disease onset after newborn screening by Dr Maria Escolar, Programme for the Study of Neurodevelopment in Rare Disorders, Children’s Hospital of Pittsburgh of UPMC, USA
  • Treatment of LSDs and Leukodystrophies by HSCT; Experience in one UK centre by Robert Wynn, Honorary Clinical Professor of Paediatric Haematology and BMT. Director of Blood and Marrow Transplant Programme, Royal Manchester Children’s Hospital
  • RIP3 as a novel potential therapeutic target for Gaucher disease and for Krabbe disease by Prof. Anthony H. Futerman, Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel.
  • UK Krabbe Disease Workshop – ‘Overcoming Therapeutic Obstacles in Krabbe Disease’ by Prof. Timothy M Cox. Neena Kim, M Begoña Cachón-González, Department of Medicine, University of Cambridge UK

Meeting participants

  • Dr Guy Besley, Retired Consultant Clinical Scientist, Willink Biochemical Genetics Unit, Manchester, UK
  • Dr Annette Bley, Inherited Metabolic Disorders Clinician, University Medical Centre Eppendorf, Hamburg, Germany
  • Dr Alexander Broomfield, Consultant Metabolic Paediatrician, Great Ormond Street Hospital, London, UK
  • Mr Derek Burke, Chief Biomedical  Scientist, Enzyme Unit, Chemical Pathology, Great Ormond Street Hospital, London, UK
  • Dr Begoña Cachón-González, Department of Medicine, Addenbrooke’s Hospital, Cambridge, UK
  • Dr Anupam Chakrapani, Consultant Paediatrician in Inherited Metabolic Disorders, Birmingham Children’s Hospital, Birmingham, UK
  • Dr Heather Church, Clinical Scientist, Willink Biochemical Genetics Unit Regional Genetics Laboratory, St Mary’s Hospital, Manchester UK
  • Prof. Timothy Cox, Professor of Medicine, Addenbrooke’s Hospital, Cambridge, UK
  • Dr Allison Cozens, Consultant Paediatrician in Inherited Metabolic Disorders, Royal Hospital for Sick Children, Edinburgh, UK
  • Ms Sarah Dudko, Trustee of Save Babies Through Screening Foundation UK
  • Dr Maria Escolar, Director: Program for the Study of Neurodevelopment in Rare Disorders Children’s Hospital of Pittsburgh of UPMC, USA
  • Prof. Anthony Futerman, Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
  • Prof. Simon Heales, Professor of Clinical Chemistry, Clinical Lead, Chemical Pathology Great Ormond Street Hospital, London, UK
  • Dr Marie Jackson, Consultant Clinical Scientist, Director of the Biochemical Genetics Laboratory, Guy’s Hospital, London, UK
  • Dr Simon Jones, Consultant in Paediatric Inherited Metabolic Disease,  St Mary’s Hospital, Manchester, UK
  • Prof. Alfried Kohlschuetter, Professor of Paediatrics, University Medical Centre Eppendorf, Hamburg, Germany
  • Dr Robin Lachmann, Consultant in Metabolic Medicine, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
  • Dr John Livingston, Consultant Paediatric Neurologist, Leeds General infirmary, Leeds, UK
  • Dr Joseph J Orsini, New York State Department of Health, Wadsworth Centre, Albany, USA
  • Prof. Hugh Perry, Centre for Biological Sciences, University of Southampton, UK
  • Dr Germain Pierre, Paediatric Metabolic Consultant, Bristol Royal Hospital for Children, UK
  • Dr Uma Ramaswami, Consultant Metabolic Paediatrician, Royal Free Hospital, London UK
  • Prof. Neil Scolding, University of Bristol Institute of Clinical Neurosciences, Department of Neurology. Frenchay Hospital, Bristol, UK
  • Ms Louise Simmons, Metabolic Specialist Nurse, Birmingham Children’s Hospital, Birmingham, UK
  • Dr Colin Steward, Consultant in BMT, Genetic and Metabolic diseases, Royal Hospital for Children, Bristol and Reader in Stem Cell Transplantation, School of Cellular & Molecular Medicine, Bristol, UK
  • Dr Marie Vanier, Director of Research (emeritus),INSERM, Lyon, France
  • Dr David Wenger, Lysosomal Diseases Testing Laboratory, Department of Neurology, Thomas Jefferson University, Philadelphia, USA
  • Prof. Bryan Winchester, Emeritus Professor of Biochemistry, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, UK
  • Dr Robert (Rob) Wynn, Consultant Paediatric Haematologist, Director, Blood and Marrow Transplant Unit, Royal Manchester Children’s Hospital, UK