Researcher
Elena Gardella
Academic Qualifications
Professor and Chief Physician Elena Gardella is employed at the Neurophysiology Clinic and the Department of Epilepsy Genetics and Personalized Medicine at Danish Epilepsy Centre, Filadelfia. She is also affiliated with the University of Southern Denmark (SDU) since 2014.
Elena Gardella is a neurologist with a Ph.D. in clinical neurophysiology.
- Member of the Commission for Classification and Terminology, International League Against Epilepsy (ILAE)
- Director of the VIREPA Basic-EEG Course of the International League Against Epilepsy (ILAE)
- Member of the Danish Epilepsy Society (DES)
- Member of EpiCARE: European Reference Network for Rare and Complex Epilepsy (Molecular Therapeutic Board in Neurological Channelopathies)
- Member of BRIDGE, University of Southern Denmark
- Co-founder of the European STXBP1 Consortium (ESCO)
- Editor and Scientific Advisory Board Member: SCN8A Italy Foundation
- Member of the Scientific Advisory Board: SCN8A Europe Foundation
- Member of the Scientific Advisory Board: SCL6A1 Foundation
Elena Gardella’s Research
Overall, Elena Gardella’s work encompasses a holistic approach to understanding, managing, and treating rare genetic epilepsies. This involves international collaboration, the use of disease registries, conducting natural history studies, and active involvement of patients and advocates to raise awareness. Here are the key aspects of Elena Gardella’s work:
- Electro-clinical Characterization and Genotype-Phenotype Correlations:
Researcher Elena Gardella studies how different genetic mutations within the same gene can lead to various clinical presentations. One genetic mutation can result in a spectrum of phenotypes with different needs. By precisely defining the electro-clinical characteristics of these different phenotypes, she aims to offer tailored counseling and a personalized approach to treatment for patients. - International Disease Registries:
Researcher Elena Gardella emphasizes the importance of patient registries to address the challenges of researching rare diseases, where sample sizes are often small and dispersed. The Epilepsy Hospital, Filadelfia, hosts large international disease registries for specific genetic disorders such as SCN8A, STXBP1, and GABA genes. These registries facilitate research and evaluation of clinical care. - Natural History Studies and Clarity for Drug Trials:
Researcher Elena Gardella participates in natural history studies (NHS), which are longitudinal clinical studies considered the gold standard for understanding the progression of rare diseases. These studies require standardized methods and specialized electro-clinical expertise. The goal is to improve care standards and accelerate the development of new treatments. She hosts NHS for specific genetic epilepsies, including SCN8A and STXBP1, as part of the ESCO consortium. - Raising Awareness about Genetic Epilepsies:
Researcher Elena Gardella is dedicated to raising awareness about genetic epilepsies and actively involves patients and advocates as essential partners. Regular conferences and family gatherings, such as the “Europe SCN8A and SCN2A conference and family gathering” held every other year, contribute to these awareness-raising efforts.
Research Areas
- Genetic Epilepsy
- Disease Registries
