Genotype-Phenotype Associations in Brain-Expressed Sodium Channelopathies: Commonalities, Differences, and Implications for Prognosis and Therapy
PhD labDepartment of Epilepsy Genetics and Personalized Medicine
InstitutionDepartment of Regional Health Research, IRS - The Epilepsy Hospital Filadelfia, University of Southern Denmark
Main supervisorProfessor Rikke Steensbjerre Møller
LaB rotations – Pre-PhD year
Lab Rotation 1
Department of Clinical Genetics, Rigshospitalet w/PI Clinical Professor Zeynep Tumer
The focus of Sopio’s first rotation will be to involve herself in lab work and learn basic techniques.
Lab Rotation 2
Department of Epilepsy Genetics and Personalized Medicine,IRS – The Epilepsy Hospital Filadelfia w/PI Professor Rikke Steensbjerre Møller
The Department of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre works to unravel the underlying mechanisms of genetic epilepsies, to understand its correlations with clinical symptoms and to find new treatment options. The group works closely with clinicians on the electro-clinical characterization of genetic epilepsies and on establishing genotype-phenotype correlations. The department also collaborates with basic scientists from different labs for the functional characterization of genetic variants to understand their pathomechanisms. During her rotation, Sopio will work on clinical characterisation of NDEEMA (Neonatal developmental and epileptic encephalopathy with movement disorders) phenotype across patients with SCN1A, SCN2A and SCN8A variants. She will collect and process their clinical information, as well as use various in silico tools and already available electrophysiological studies to assess the effect of genetic variants on the sodium channel function.
Lab Rotation 3
Sørensen Lab, Department of Neuroscience, University of Copenhagen w/PI Professor Jakob Balslev Sørensen
The Sørensen Lab studies the inner workings of the molecular machinery for neurotransmitter release, and the defects that lead to disease, for example epileptic encephalopathies. For this purpose, the group uses a wide variety of techniques, such as optical and electrophysiological measurements on living cells, and combines it with genetic and molecular biology methods (mouse knockouts, viral expression). During her rotation, Sopio will get hands-on experience with cell culturing, electrophysiology and imaging.
Meet Sopio Gverdtsiteli
Sopio Gverdtsiteli obtained her MD from Tbilisi State Medical University, Georgia in 2019. She worked within pediatric neurology for three years and has experience in working with patients suffering from epilepsy and other neurodevelopmental disorders. Sopio is especially interested in the pathogenesis of genetic epilepsy and other rare neurological diseases.
Sopio has a medical background, so the lab setting is quite new to her. Through the NAD programme, she is excited to gain hands-on experience and a deeper understanding of the scientific groundwork that directly influences clinicians in their work.
In her research, Sopio is motivated by how scientific discovery can improve treatment and patient lives – the process from bench to bedside:
“During my work as a medical doctor, I have experienced how the work that is done by researchers directly influences the course of disease, disease management and the day-to-day lives of patients. (…) I want to dig deeper into the mechanisms that lead to various neurological diseases and find out how it influences the work done in the clinic.”
Sopio has an inquisitive mind, and she is fascinated by complex problems. For Sopio, the research process is not about finding definitive answers, but about asking better questions.