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Associate Professor at Vilnius University, Faculty of Medicine, Head of Unit, Center for Medical Genetics, Vilnius University Hospital Santaros Clinics, National Coordinator, Orphanet International, Panel of Experts Member, WHO Collaborative Global Network for Rare Diseases, Diagnostics Scientific Committee Member, International Rare Diseases Research Consortium (IRDiRC)

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 Genetics and a Coordinator of International Affairs in 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 more than 15 years. Currently, she is a Vice-Chair of the Diagnostic Scientific Committee in the International Rare Diseases Research Consortium IRDiRC, a member of a coordinating group in the European Joint Program on Rare Diseases EJPRD, National Coordinator of Orphanet Lithuania, Advisory Committee member in the European Rare dIsease research Coordination and support Action ERICA and Lithuanian Representative in the European Reference Network Board of Member States (ERN BoMS). In the ERN BoMS, she participates in the WG on Research and chairs a Working Group on ERN integration into national systems. Her activities also extend to professional/scientific organizations: she is a Board member of European Society of Human Genetics, one of the founders of Baltic Society of Inherited Metabolic Diseases.

Through all these activities, dr. Tumienė fosters manifold interests in rare diseases, that combine the perspectives of a health professional, lecturer, policy-maker and an advocate of rare disease patients. She comes from a small newcomer EU13 country; hence, her particular concerns about equity, right to health and accessible, quality care across Europe and beyond, and beliefs in common European values and collaboration as a way to solve pan-European rare disease problems. In 2021, assoc.prof. Tumiene was awarded the Black Pearl European Leadership Award for her input into the development of European Reference Networks.

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