Project: Characterization of CSNK2A1 disease causing variants in two-dimensional differentiated neurons

Dr. Matt Huentelman is a Professor and the Division Director of the Neurogenomics Division at the Translational Genomics Research Institute (TGen) in Phoenix, Arizona. His research focuses on understanding the molecular aspects of the human nervous system in health and disease. Dr. Huentelman joined TGen in July of 2004 after completing his doctoral work at the University of Florida's Department of Physiology and Functional Genomics at the McKnight Brain Institute. His research is/was supported in part by the National Institutes of Health, the Department of Defense, the Defense Advanced Research Projects Agency, the Arizona Community Foundation, the Institute for Mental Health Research, Science Foundation Arizona, the Flinn Foundation, and the American Heart Association. He has published over 250 peer-reviewed manuscripts since 1998 which have been cited over 30,000 times by his peers.

Grant Details:

Project funded for 1 year starting in 2024 for a total of $151,990.

Aims of Grant:

Dr. Matt Huentelman and Dr. Leigh Nicholson will characterize the in vitro genotype-phenotype relationship for several disease-causing variants within the CSNK2A1 gene in patient-derived 2D cultures of differentiated neurons generated from induced pluripotent stem cells (iPSCs). Patient-derived iPSCs provide a unique opportunity to model human brain development both in a “normal” context and in the presence of OCNDS-causing mutations. This project will be critical in determining the utility of these patient lines for further studies such as drug repurposing and/or gene-modifying therapeutic approaches. Furthermore, we will gain valuable insights into how changes in the CSNK2A1 gene affect development.