POSITION:

Head of the laboratory of Rare Diseases

AFFILIATION:

University Hospital of Udine

WORKING/RESEARH FOCUS:

Dr. Andrea Dardis obtained a MS degree in Biochemistry and then a PhD in Molecular Biology at the University of Buenos Aires, Argentina. She continued her training at the Metabolic Unit, University of California, San Francisco, USA as a post-doctoral fellow. During her training she was awarded the International Fellowship of the Lawson Wilkins Pediatric Endocrine Society. She then moved to Italy where she got a Specialist Degree in Medical Genetics at the University of Genoa.

In 2003 she joined the Metabolic Diseases Unit, Pediatric Hospital “Burlo Garofolo”, Trieste, Italy directed by Dr. Bruno Bembi as a Research Scientist. In 2009 she moved to the Regional Coordinator Centre for Rare Diseases in Udine, Italy, where she became Head of the Laboratory.

She is responsible for the “Biobank of ALS, Neuromuscular and Lysosomal Diseases” of the University Hospital of Udine and member of the Board of Trustees of the International Niemann Pick Disease Registry. Dr. Dardis has authored over 90 peer-reviewed publications and her activities are mainly focused on the biochemical and molecular diagnosis of lysosomal storage diseases, the functional characterization of defective lysosomal enzymes and the study of molecular mechanisms involved in the pathogenesis of lysosomal storage disorders.

WHAT IS THE IWGGD FOR ME?

A community of clinicians, scientists and patients with different and complementary expertise working together to improve Gaucher patient’s care and quality of life by promoting collaborative research projects and by raising awareness of the disease among the medical community and the society.