DMRF Canada Awards New Genetic Dystonia Research Grant

Paul

Paul Marcogliese, PhD, Assistant Professor, Biochemistry & Medical Genetics, Rady College of Medicine at the University of Manitoba

DMRF Canada is pleased to partner with Canadian organization Rare Diseases: Models & Mechanisms Network (RDMM) to fund a new research grant with lead investigator Paul Marcogliese, PhD, Assistant Professor, Biochemistry & Medical Genetics, Rady College of Medicine at the University of Manitoba.

Dr. Marcogliese and his team are focused on investigating a mutation in IRF2BPL - a little- known gene that is the cause of a severe neuroregressive disorder in children where approximately 50% of cases present with dystonia.

Having spent his doctoral studies investigating rare forms of neurological diseases, and better understanding the behaviour brain pathology of parkinsonian mice, and using fruit flies to help uncover IRF2BPL as a new human disease gene, Dr. Marcogliese is now focused on determining how the loss of the gene IRF2BPL causes neuronal dysfunction in patients.

Dr. Marcogliese’s lab is hoping that the characterization of the Irf2bpl mouse model will shed insight into a rare and devesting disorder in children but also inform on the molecular underpinnings of dystonia in humans. Stay tuned for updates on this exciting research.

Last update: Oct 2022