Birutė Tumienė

Assoc. prof. Birutė Tumienė is a clinical geneticist by background. She graduated Faculty of Medicine in Vilnius University, where she also obtained her residency training in clinical genetics and accomplished PhD studies in rare genetic epilepsies; currently, she gives lectures on genetics and rare diseases in her Alma Mater. Besides, she is the Head of Unit for Clinical Genetics and Genomics and the Head of the Coordination Center for Rare Diseases at Vilnius University Hospital Santaros Klinikos.

Her international rare diseases-related activities are as intensive, with a track record of almost 20 years. She is deeply involved in many European Reference Networks (ERN)-related activities, including a position of a Chair of the ERN Board of Member States. In the Joint Action on ERN integration into national systems JARDIN (https://jardin-ern.eu/), she co-leads WP6 on rare disease care pathways and leads WP4 on ERN sustainability actions, including revision of National RD Plans and Strategies in the EU.

Currently, she is a co-leader of a Workstream for education and capacity building in the European Rare Disease Research Alliance ERDERA, a member of the IRDiRC Diagnostic Scientific Committee, a National Coordinator of Orphanet Lithuania, a member of a Panel of Experts in the WHO Collaborative Global Network for Rare Diseases.

Through all these activities, assoc.prof. Tumienė fosters manifold special interests in rare diseases, that combine the perspectives of a health professional, researcher, lecturer, policy-maker and an advocate of rare disease patients. In 2021, assoc.prof. Tumienė was awarded EURORDIS Black Pearl European Leadership Award for her input into the development of European Reference Networks.