Dr Derek Dykxhoorn is leading a study of 20+ individuals with a range of NR4A2 deletions and variations to examine how different genetic changes alter the function of dopaminergic neurons. This includes analysis of their metabolic activity, electrical activity and production and release of key neurotransmitters, such as dopamine. Blood cells have been engineered in the laboratory to become induced pluripotent stem cells or iPSCs, before being reprogrammed as dopaminergic neurons. Based on functional and gene expression analyses, several new small molecules with the potential to restore NR4A2 function will then be tested.

If you are interested in joining this cohort study, do get in touch on the email below or directly to the Hussman Institute of Human Genomics at the University of Miami, US.

NR4A2study@gmail.com