We actively consult and communicate with existing global online communities of individuals with ultra rare genetic changes to the NR4A2 gene, as well as their families, and aim to be a single, coherent voice for our very small community as the Patient Advocacy Group.

We are very fortunate that the NURR1 protein has been extensively studied since the 1990s, but the identification of disabling genetic changes to the NR4A2 gene itself is very new and it has only recently been recognised as a specific disorder. Our objectives are therefore evolving quickly as our community grows and more is understood about treatment possibilities, including new molecules and gene therapies. The landscape is changing fast, and when there are new research studies, we ensure that our community are aware of any opportunities to participate and we aim to share scientific findings to all in regular, accessible updates that can be shared with family doctors and clinicians.

We aim to connect active researchers and organisations currently involved in studying the NR4A2 gene and the NURR1 protein. We also aim to develop links with pharmaceutical companies that are developing new and novel therapeutics that are known to increase NURR1 protein activity and expression, as well as cutting edge AI-driven biotech companies that are transforming the landscape for identifying treatment possibilities for very rare conditions.

Our core objective, however, is to help create an accelerated pathway to effective treatments and therapies as soon as possible. We hope, given the importance of the NURR1 protein, that there may be much wider applications for children, adolescents and adults with other developmental or neurological conditions.