Anna Tylki-Szymańska

Anna Tylki-Szymańska is Professor of Paediatrics and Paediatric metabolic and genetic medicine at the Children’s Memorial Health Institute, Department of Metabolic Diseases in Warsaw, Poland. She obtained a degree in medicine from the Warsaw Medical University and received postgraduate training at the department of Genetics of the Hospital des Enfant Malad in Paris, France. She received her PhD from the Institute of Psychiatry and Neurology in Warsaw, and trained at the Northwick Park Hospital in London, UK, the Hospital Debrousse in Lyon, France, and the Albany Medical Centre in New York, USA.

In the field of metabolic diseases, Prof. Tylki-Szymańska’s interests are focused in particular on lysosomal diseases, in which she has specialised for 30 years at the Department of Metabolic Diseases, which is the only referral centre in Poland for inborn errors of metabolism.

Prof. Tylki-Szymańska’s research interests are directed in particular on neurometabolic and neurodevelopmental diseases, and she is especially interested in developing diagnostic assays and new approaches for the treatment of lysosomal diseases. She was a principal investigator for the recombinant enzyme replacement clinical trials for Gaucher, Fabry, MPS II and substrate inhibition therapy trials for MPS III, LAL deficiency and Gaucher disease. Publications: 250 (Pubmed), Hirsch index 38.

Prof. Tylki-Szymańska is a winner of the Order of the Smile. Order of the Smile is an international award given by children, to adults distinguished in their love, care and aid for children.

Member of:

• Editorial board of “Metabolic Brain Diseases”
• European Working Group of Gaucher Disease (EWGGD)
• European Study Group of Lysosomal Diseases (ESGLD)
• Society for the Study of Inborn Errors of Metabolism (SSIEM)
• Visiting professor Kazakhstan (Almaty), Russia (Kazan)