1st ELA Scientific Day

On April 4th 2014 the ELA Foundation’s Scientific Council organized the first ELA scientific day in Paris.

This event was organized the day before the 2014 ELA Families / Researchers meeting and was offered to scientists working in the field of leukodystrophies. It was an occasion to discuss the progress made by the research projects ELA is funding and more generally the research progress in this field.

2014 ELA Scientific Day - Group picture


The detailed day’s programme

8:45 am Welcome
Professor Charles ffrench-Constant, president of the ELA Foundation’s Scientific Committee

9 a.m. Scientific session 1 – Diagnosis of leukodystrophies
Chair: Professor Jean-Louis MANDEL (France)

  • New genes identified for undetermined leukodystrophies – Professor Enrico Bertini (Italy)
  • Improving the diagnosis of leukodystrophies – Professor Jean-Louis Mandel (France)

10 a.m. Scientific session 2 – Understanding the mechanisms of leukodystrophies
Chair: Professor Raul ESTEVEZ (Spain)

  • Understanding Aicardi-Goutieres syndrome – Dr Yanick Crow (UK)
  • Mechanisms responsible for polymerase III-related leukodystrophies – Dr Genevieve Bernard (Canada)

11 a.m. Scientific session 3 – New experimental models for leukodystrophies
Chair: Professor Volkmar GIESELMANN (Germany)

  • Development of experimental models for megalencephalic leukoencephalopathy with subcortical cysts (MLC) – Professor Raul Estevez (Spain)
  • An in vitro model of vanishing white matter disease – Dr Marie Harrisingh & Professor Charles ffrench-Constant (UK)

13 p.m. Scientific session 4 – Therapies for leukodystrophies
Chairs: Professors Patrick AUBOURG (France) & Alfried KOHLSCHÜTTER (Germany)
Preclinical studies

  • Gene therapy by intracerebral transfer of the ARSA gene for MLD – Dr Caroline Sevin (France)
  • Gene therapy for Canavan disease – Dr Guangping Gao (USA)

Clinical studies

  • The effect of physical exercise on the function and pathology of women with adrenomyeloneuropathy – Dr Kathleen Zackowski (USA)
  • Evaluating the effects of a cocktail of antioxidants in patients with adrenomyeloneuropathy – Dr Aurora Pujol (Spain)
  • Presentation of the MD1003 clinical trial in adrenomyeloneuropathy – Dr Frederic Sedel (France)
  • Phase I/II clinical trial of hematopoietic stem cell gene therapy for the treatment of metachromatic leukodystrophy – Dr Alessandra Biffi (Italy)

16 p.m. Conclusion of the scientific day
Professor Charles ffrench-Constant, president of the ELA Foundation’s Scientific Committee

Documents to download