Congratulations to Dr Tracey Immanuel on her appointment as a Research Fellow in the laboratory of Dr Maggie Kalev in the Department of Molecular Medicine and Pathology.
Tracey will work on the project ‘Blood cells as the source of potential biomarkers for GRIN disorders,’ funded by the CureGRIN Foundation in the USA and developed in collaboration with the University of Toronto (Canada).
GRIN disorders arise from mutations in the N-methyl-D-aspartate (NMDA) receptor, the primary excitatory receptor in the brain. GRIN disorder symptoms include developmental delay, intellectual disability, seizures, autism, and movement problems. The NMDA receptor is predominantly found in neuronal cells but is also present in non-neuronal cells, including blood cells. There is a need to identify biomarkers for GRIN disorders to enable disease monitoring and the treatment of patients. No such biomarkers exist. Therefore, Tracey will aim to determine how to utilise peripheral blood samples to develop biomarkers for these patients. Molecular effects downstream of mutated NMDA receptors will also be determined in model cells and validated in patient cells to assist with prognostication and the development of novel therapies.