iPSC Derived Neurons Used for Rare Disorder Modeling | Ivy Dick - Maryland Stem Cell Research Fund

Dr. Ivy Dick, Assistant Professor in the Physiology Department at the University of Maryland School of Medicine, and her lab study the regulation of voltage-gated calcium channels and their associated diseases, such as Timothy Syndrome (TS). TS is a rare genetic disorder that affects multiple organs, including the heart and brain. Sadly, the life expectancy of a patient with TS is 2.5 years leading to early childhood death.
Dr. Dick’s research combines cutting-edge methodologies to investigate the biological mechanisms responsible for Timothy Syndrome’s multi-system manifestations.
A common cardiac symptom of TS is a prolonged QT interval, a parameter that measures the time it takes the heart to complete a cycle of contraction. This abnormality predisposes the patient to cardiac arrhythmias that can be fatal. Dr. Dick studies this condition by implementing a genetically engineered induced pluripotent stem cell (IPSC) system that replicates the cardiac arrhythmias seen in TS patients. Using this system, Dr. Dick and her team have been developing and testing novel treatment strategies for this rare disorder.
Furthermore, patients with TS also present with neurological defects and autism spectrum disorders (ASD). Affected children have delayed development of speech and language, as well as impaired socialization skills. To address this, Dr. Dick studies how TS mutations affect calcium regulation in IPSC derived neurons. Her team further evaluates different therapeutics that can potentially restore these malfunctioning neurons that are specific to ASD. Dr. Dick describes how the Maryland Stem Cell Research Fund has “enabled us to bring our mechanistic studies of Timothy Syndrome mutation into the context of a human cell model, allowing us to apply what we learned about the calcium channel itself to develop new treatment strategies”.
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Dr. Dick’s research focuses on understanding the mechanism underlying calcium channels that regulate calcium ion entry into the cells of the heart and brain. Mutations in such channels lead to inactivation defects that cause downstream cardiac complications and neurological disorders. The underlying cause of Timothy Syndrome is a mutation in the specific L-type calcium channel. Dr. Dick’s lab is implementing a gene-based approach to modify the expression level of mutated proteins in the affected channels, in hopes of extending the life expectancy of TS patients in the future.
To learn more about the Maryland Stem Cell Research Fund, visit: www.mscrf.org
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