Research network

DR GERALD W. ZAMPONI

Dr Gerald Zamponi is a Professor in the Cumming School of Medicine at the University of Calgary. Dr Zamponi’s research addresses how calcium channels contribute to neurological disorders such as chronic pain and migraine, with the goal of developing strategies to regulate ion channel function for therapeutic intervention. His work also deciphers the functional connectomics of brain circuits that process pain signals.

“It is essential for patients and their families and us to understand how mutations in calcium channel genes affect the functional and pharmacological characteristics of the channels, and their impact on physiology. Only then can we devise potential therapeutic approaches.”

DR NORBERT WEISS

Dr Weiss earned his PhD in Neuroscience and Neurobiology from the University Joseph Fourier (France), where he also obtained his MS in Molecular and Cellular Biology, and his BS in Cellular Biology and Physiology. Prior to becoming an independent scientist, he conducted postdoctoral research at the University Claude Bernard (France) on the physiopathology of skeletal muscle calcium channels

"Joining the Voltage-Gated Calcium Channel Collective means becoming part of a community dedicated to advancing research, fostering collaboration, and supporting patient families. Together, we strive to deepen our understanding of calcium channel biology, develop innovative therapies, and bring hope to those affected by channelopathies and related conditions.”

DR JACK UNDERWOOD

Dr Jack Underwood is a Forensic Psychiatry Registrar on a Welsh Clinical Academic Training Fellowship, based at the Neuroscience and Mental Health Innovation Institute, Cardiff University. 

"There are emerging parallels in symptoms and experiences across the communities for individuals with voltage-gated calcium channel gene variants, and by working together we can help not only each other's communities, but also link the experience, clinical observations and laboratory research across genes to further the understanding and potential treatments for these conditions."

DR NADINE J. ORTNER

Nadine J. Ortner studied molecular biology (neurosciences & molecular medicine) and pharmaceutical sciences at the Universities of Vienna and Innsbruck, Austria. Her research focuses on the role of Cav1.3 Ca²⁺ channels in human disease and their pharmacological modulation as potential therapeutic intervention.

"The close interaction among families, treating clinicians and researchers facilitated by the VGCCC allows us to centralize real-life clinical information and pre-clinical experimental findings in a feedback loop that fosters a holistic and deeper understanding of these complex disorders, crucial to advance research and the development of treatment options."

DR JAMES HODGE

Dr James Hodge is a Professor in Physiology, Pharmacology and Neuroscience at University of Bristol.

"An important benefit of the VGCCC is for researchers to access their novel variants of unknown significance and accompanying phenotypes and then try to use them to determine their mechanism of action and to publish them. This hopefully puts them on the scientific and clinical map and contributes to them maybe becoming recognised as variants of known significance with the knowledge gained helping us better understand the disease facilitating better diagnosis and treatments."

DR ALEXANDRA KOSCHAK

Dr Alexandra Koschak, Associate Professor at the University of Innsbruck, leads research on L-type calcium channels in vision, exploring their pharmacotherapeutic potential, aims to prove concepts of viral therapies for retinal diseases, and is part of the CavX PhD program.

"I see many exciting opportunities in an accelerated research program. By pooling resources, expertise, and data from multiple research groups and institutions, advances in understanding channelopathies and developing treatments can be made more rapidly."

DR YOUSRA EL GHALEB

Yousra El Ghaleb studied Psychobiology and Molecular Neuroscience at the University of Amsterdam and completed her PhD at the Medical university of Innsbruck, Austria. Since she identified CACNA1I (Ca V 3.3) as a disease gene for neurodevelopmental disorders and epilepsy, her work focusses on studying putative CACNA1I disease variants and disease mechanisms underlying patient phenotype.

“The VGCCC offers a unique platform where researchers, clinicians, and patient families can find each other and learn from each other’s experiences in real time. I feel there is still a lot of miscommunication between these three parties and the VGCCC allows us to break these walls and build a future where every piece of the puzzle is used to understand and treat calcium channelopathies.”

FIKRI BIREY

Fikri Birey is an Assistant Professor in the Department of Human Genetics at Emory University. His research focus includes efforts to investigate calcium channelopathies using advanced in vitro human neural models. During his postdoctoral work, he uncovered novel cellular and molecular phenotypes, as well as therapeutic strategies, for Timothy Syndrome. Currently, his lab is investigating CACNA1A-related neurodevelopmental disorders, with an emphasis on elucidating disease mechanisms and identifying potential therapeutic targets.

"Understanding potential shared mechanisms underlying calcium channelopathies at both the bench and the clinic is essential for charting a path toward effective and safe therapeutics. The VGCCC serves as a vital platform, bringing together diverse expertise and experiences to transform this urgent biomedical goal into a reality."

DR NICOLA HALL

Nicola Hall is a postdoctoral researcher at the University of Oxford, Department of Psychiatry. She is using her background in molecular biology and RNA sequencing to investigate gene expression in the human brain. Her current work focuses on alternative splicing of the calcium channel CACNA1C. Nicola completed her PhD in 2017 at the University of Oxford, Department of Biochemistry.

"The methods I have used to study CACNA1C can easily be applied to the other VGCC genes, and this will be true for the methods used by other researchers too. Linking researchers with expertise in different methods and genes will help us share techniques and results, facilitating science that is more open, rigorous and collaborative."

DR REBECCA LEVY

Dr Rebecca Levy is the director of the Pediatric Neurogenetics Clinic at Stanford. She also studies 3D neural organoid models of neurogenetic disorders in the lab of Dr Sergiu Pasca. She studies both the clinical symptoms and organoid models of CACNA1C-related disorder including Timothy syndrome. Her goal is to use human cellular and other model systems to more readily translate treatment approaches from the lab bench to the patient’s bedside.

“Science and medical treatment both advance when we communicate across labs, institutes, and disorders to learn how to translate and push forward together.”

PROF DR GERALD J. OBERMAIR

Gerald Obermair is a neurophysiologist and professor at the Karl Landsteiner University of Health Sciences in Krems, Austria. His lab studies how calcium channel proteins regulate synapse formation and synaptic transmission, thereby providing insights into mechanisms underlying neurological and neurodevelopmental disorders.

“How mutations of α 2 δ proteins are linked to neurodevelopmental disorders is currently poorly understood. Bridging the gap between patients and their families, clinicians and basic researchers will help to expand our knowledge of the disease-causing mechanisms and thus contribute to the development of future treatment options.”

DR DENNIS LAL

Dr Dennis Lal is a researcher and educator in genetics and clinical neurogenetics, known for his pioneering work in epilepsy genomics, including gene discovery, polygenic risk, and neurodevelopmental disorders. As Director of the Center for Neurogenetics at UTHealth Houston, he advances precision medicine through genomic research, clinical care, and education.

"Collaboration across researchers and patient organisations in studying voltage-gated ion channels is essential for pooling diverse data, sharing specialised expertise, and accelerating the discovery of targeted treatments. By working together, we can translate scientific findings into real-world solutions faster and ensure that research remains patient-centred. This united effort enhances both the scope and impact of precision medicine in neurological disorders."

DR MARTA CAMPIGLIO

Dr Marta Campiglio studied molecular biology at the University of Padova, Italy. Her research focuses on the
proteins mediating excitation contraction coupling, particularly CaV1.1 and accessory proteins.

“A platform that allows patients' families to contact researchers fosters better communication, enhances
support, and ensures that concerns and insights from families are considered in the research process,
benefiting both patients through improved care and researchers with valuable perspectives for their
studies.”