Gottfried Schatz Forschungszentrum

Research focus Signaling

PI: Nadine Jasmin Ortner

Focus: Our research focuses on the biophysics and pathophysiology of voltage-gated calcium channels. These channels control calcium entry into electrically excitable cells and play essential roles in the nervous, endocrine, auditory, and cardiovascular systems. Using electrophysiological, pharmacological, and molecular biological methods as well as cellular and animal models, we investigate how genetic variants alter channel function and cause disease. Our goal is to understand the relationship between genetic variation, channel function, and clinical phenotype and to use these insights to develop precision medicine approaches.

Networking: Calcium channels function within complex networks – and our research likewise thrives on close collaboration. Our partners include Klaus Liedl, Stefanie Geisler, Frank Edenhofer and Christopher Esk (University of Innsbruck), Monica Fernández-Quintero (University of Copenhagen), Gerald Obermair (Karl Landsteiner University of Health Sciences, Krems), Jochen Roeper (Goethe University Frankfurt), Ute Scholl & Gabriel Stölting (Charité Berlin), Gerald Zamponi & Billie Au (University of Calgary), Jack Underwood (Cardiff University), and Norbert Weiss (Charles University Prague). The global patient network The VGCCC provides an important link to affected individuals and their families.

Projects

Multi-system study of pathogenic CACNA1D variants (FWF FG35)

  • Pathogenic variants in the CACNA1D gene alter the function of the Cav1.3 calcium channel and can cause neurological, psychiatric, and endocrine disorders. The research group combines computational modelling with studies of channels, cells, and animal models to elucidate the relationships between genetic variants, channel function, and clinical phenotype. Our subproject uses a genetic mouse model to investigate how a gain-of-function Cav1.3 variant affects neuronal and endocrine cells and to identify potential biomarkers and therapeutic approaches.
  • Duration: 2025–2030
  • Funded by: Austrian Science Fund (FWF)
  • Project partners: Consortium: Stefanie Geisler, Christopher Esk, Frank Edenhofer, Petronel Tuluc (University of Innsbruck); international collaborators: Ute Scholl (Charité – Universitätsmedizin Berlin, Germany) and Jochen Roeper (Goethe University Frankfurt, Germany)

CavX: Calcium channels in electrically excitable cells (FWF DOC178 doc.funds)

  • The CavX doc.funds programme investigates the structure, function, and disease-associated alterations of voltage-gated calcium channels. Our PhD subproject focuses on gain-of-function CACNA1D variants such as A749G. Using our genetic Cav1.3A749G mouse model, we investigate whether targeted inhibition of Cav1.3 can ameliorate disease-relevant alterations in behaviour and in neuronal and endocrine cells. The aim is to assess the therapeutic potential of selective Cav1.3 inhibition for CACNA1D-associated disorders.
  • Duration: 2023–2027
  • Funded by: Austrian Science Fund (FWF), doc.funds
  • Project partners: Stefanie Geisler (University of Innsbruck), Jochen Roeper (Goethe University Frankfurt, Germany)

The dopamine system in a Cav1.3 calcium channelopathy mouse model (FWF P35087)

  • Gain-of-function variants in the CACNA1D gene can cause neurological and psychiatric symptoms. As Cav1.3 plays an important role in dopamine-producing neurons, we use a genetic mouse model to investigate the effects of a disease-causing variant (A749G) on the dopamine system. We study alterations in neuronal function, dopaminergic signalling, and behaviour, as well as the effects of pharmacological treatments. The aim is to elucidate disease mechanisms and evaluate potential therapeutic approaches.
  • Duration: 2021–2027
  • Funded by: Austrian Science Fund (FWF), Stand-Alone Project P 35087
  • Project partners: Jochen Roeper (Goethe University Frankfurt, Germany) and Anjali M. Rajadhyaksha (Temple University, Philadelphia, USA)

Division of Medical Physics and Biophysics

Nadine Jasmin Ortner 
T: +43 316 385 71695

Team

Members