Project: Computational Characterization of CSNK2A1 variants in OCNDS

Dr. Dominguez is a world expert in the field of Wnt/B-catenin signaling, a pathway modulated by the protein CK2. As a result, her lab has studied CK2 and pivoted into studying the rare neurodevelopmental diseases caused by genetic variants in CK2 subunits, including OCNDS. Specifically, Dr. Dominguez integrates cellular, organismal, computational, and clinical studies to understand the mechanisms of disease progression in CK2 related disorders.

Grant Details:

Projected funded for 1 year starting in 2021 for $26,201.

Aims of Grant:

Dr. Dominguez and her team will use a variety of clinical databases to determine the frequency of all reported CSNK2A1 mutations that cause neurologic-associated symptoms, including in individuals currently not diagnosed with OCNDS. Additionally, computational tools will be used to predict the consequences of any mutations found on the evolutionary, functional, biochemical, and structural levels. Finally, they’ll use the data mined from their clinical database search to investigate relationships between mutations and clinical manifestations of disease. Overall, this study will survey the diversity of CSNK2A1 mutations and their functional and clinical consequences in the most complete manner to date.

Published Results from this Grant to Date:

Unni et al., 2022. Predictive functional, statistical, and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental disorders. Frontiers in Molecular Bioscience 9:851547. 

Link to Research Explained – Written but not yet on the website