Trish Kometer is the mother of a child with primary NURR1 deficiency. She has a Masters in Library and Information Studies from University of Rhode Island, and has worked as an archivist and reference librarian, as well as a research/data analyst in both broadcast media and higher education. She is currently homeschooling her two children and applying her research skills toward identifying potentially relevant repurposed drug treatments for developmental NURR1 insufficiency.

Jenny has a son with a genetic NURR1 deficiency and lives in London, UK. She is a psychotherapist working with teens and adults, but previously spent over a decade as a policy advisor and manager of multi-disciplinary teams for the UK Government. She has a degree in English Language and Literature (Oxford University) and a Masters in Public Administration (Warwick University) and is focusing on estabishing an effective Patient Advocacy Group that represents the global community.

Nuri Dadlani is a parent advocate for rare diseases and has a PhD in Biology from the University of Cambridge, a MSc in Bioinformatics and a BEng in Bioengineering from Imperial College London. She has over 10 years of industry experience and is currently undertaking an academic returnship in AI for healthcare at Imperial Global Singapore. Nuri is passionate about leveraging data and AI to drive progress in rare disease research, aiming to improve outcomes for patients and families affected by these conditions.

Joe has spent nearly three decades passionately advocating for his (now adult) son who has a genetic NR4A2 variant, as well as researching the science as it has evolved. He and his son have now featured in a number of media articles and broadcasts in the US and he continues to spread awareness of the condition and the potential for treatments to be developed. He is a central point of contact in our community and enjoys reaching out to other families and sharing his knowledge of living with symptoms. Joe strongly believes in the use of assisted technology to enable those with learning differences to achieve their potential.

Ellen is a mother to a child with genetic changes to the NR4A2 gene. She is from Norway and has a Masters in Societal Safety and Crisis Management from the University of Stavanger, working as a HSEQ manager in oil and gas. Her passion is to facilitate communication among individuals who share the same type of genetic mutation, and their parents / guardians. Ellen is primarily the parent advocate for the youngest children under the age of five.

Dr Montarolo is a neuroscientist and biologist, and one of the world’s leading experts on the NR4A2 gene and NURR1 protein, having studied it extensively from her early years as a post-doctoral researcher. She was among the first to identify reduced NURR1 expression in patients with Multiple Sclerosis and, along with others, demonstrated a deregulation in Parkinson’s Disease. She was the first to also identify its deregulation in Amyotrophic Lateral Sclerosis (ALS) in 2020. Dr Montarolo has published significant findings on behavioural traits associated with a NURR1 deficit, including hyperactivity and impulsivity. Finally, in spite of the important role of NR4A2 / NURR1 in the dopaminergic system, Dr Montaolo has shown that the number of midbrain dopaminergic neurons and dopamine levels in the brain are not impaired in mice without NURR1 expression (2019).

TBC