Ao.Univ. Prof. Dr MBA, LSD, Center of Pathobiochemistry and Genetics, Medical University of Vienna, Austria
After graduation with a focus on music and fine art in Vienna, she studied human medicine at the University of Vienna. Beginning of training for a general practitioner and clinical pathologist in public hospitals in Vienna. Specialization in laboratory medicine, clinical genetics and cytodiagnostics. Afterwards, working at the Medical University of Vienna and currently working in the Center of Pathobiochemistry and Genetics, since 2011 also in the Genetic Counseling Unit at the Institute of Medical Genetics. Furthermore, doctoral studies in health sciences in Tyrol and Master of Business Administration in Vienna.
For many years working in the field of lysosomal diseases, responsible for the urinary screening of lysosomal diseases in Vienna and the neighbouring parts of Austria. Close contacts to European metabolic centres and colleagues to improve the methods with studies at the Willink Biochemical Genetics Unit at the Royal Manchester Children's Hospital in Manchester, UK, the Institute for Child Health, Great Ormond Street in London, the Villa Metabolica at the Pediatric Department of the Johannes-Gutenberg-University in Mainz, Germany, and the Research Lab of the Pediatric Department in Hamburg / Eppendorf, Germany.
Published many peer-review articles about mucopolysaccharidoses and other hereditary diseases, mostly from the group of lysosomal diseases, connective tissue and extracellular matrix. Publisher of several editions of a book about "Mucopolysaccharidoses for Doctors and Families", published in German, Hungarian and English. As well as specialized in laboratory medicine, many articles about laboratory organization, quality management, quality control, economic aspects and coauthor of the first Austrian version about the implementation of ISO 9001 for the medical and chemical laboratories.
From the beginning on, close contact and cooperation with patients with mucopolysaccharidoses and similar diseases and their families. Co-founder of the Austrian MPS Society and an honorary member of the Austrian and German MPS Society. For many years vice-president and head of the umbrella organization of patient organizations in Vienna. Always in close contact with many patient organizations and active role in their foundation (Gaucher's disease, Lobby4Kids, Ehlers-Danlos-Syndrome). The primary goal has always been to help those affected with MPS or other LSD and their families to improve their quality of life, despite illness. In addition, to inform the medical community about lysosomal diseases and to raise public awareness for the specific problems with MPS and other LSDs.
Winner of several awards from the Austrian Pediatric Society and Austrian Society of Laboratory Medicine. 2016 winner of the scientific “Life for MPS award”, presented by the International MPS Working Group during the International MPS Conference in Bonn, Germany.