Presentation by Professor Paul J Hagerman, MD, PhD

Prof Hagerman is a molecular geneticist with a principal interest in understanding the basis for neurodevelopmental and neurodegenerative diseases. In particular, the Hagerman lab has made a number of important observations related to the mechanism of gene expression of the fragile X (FMR1) gene, mutations of which are responsible for fragile X syndrome, the leading heritable form of mental impairment and leading known cause of autism.

In 2001, Prof Hagerman and his wife, Dr Randi Hagerman (Medical Director of the MIND Institute), were responsible for the reporting of their discovery of a neurological disorder involving tremor and gait ataxia, which they later named fragile X-associated tremor/ataxia syndrome (FXTAS). Professor Hagerman is currently on the scientific advisory board of the National Fragile X Foundation and is Director of the NeuroTherapeutics Research Institute (NTRI), which is funded through the “Roadmap Initiative” from the National Institutes of Health.

Title: “RNA Toxicity in Fragile X Premutation on Disorders in Development & Ageing”

Sponsored by Brain Sciences UNSW, in association with The Department of Developmental Disability Neuropsychiatry (3DN) UNSW and the Fragile X Association of Australia