Dr Derek Dykxhoorn is leading a study of 25+ individuals with a range of NR4A2 deletions and variations to examine how genetic changes alter the function of dopaminergic neurons and the expression and activity of the NURR1 protein.

This study is sponsored by CureNURR1 and includes analysis of metabolic activity, electrical activity and the 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 (drugs) with the potential to restore cellular function will be tested.

Biological samples from our cohort study can also be shared with researchers from other institutions who are working on NR4A2 / NURR1.

If you are interested in finding out more or joining this cohort study, do get in touch on the email below or contact Dr Dykxhoorn at the Hussman Institute of Human Genomics at the University of Miami, Florida, USA.

NR4A2study@gmail.com