[NFS-01] Frontier of repeat disease

[NFS-01-3] Mechanistic and Therapeutic Insights into Repeat Expansions Disorders

Leonard Petrucelli (Mayo Clinic, USA)

Among the hereditary neurodegenerative diseases in past decades, an expansion of the number of triplet repeat sequences has been identified as a causative mutation. However, very recently, an expansion of a number of Penta- and hexa-repeat related diseases have been identified in spinocerebellar ataxia, ALS, and epilepsy. In this symposium, we invited pioneers of these findings. The audience will be able to touch on the forefront of the molecular pathogenesis of new mechanism of neurological disorders.

Leonard Petrucelli, Ph.D., is a consultant and chair of the Department of Neuroscience at Mayo Clinic in Florida. Dr. Petrucelli and his research team are at the forefront of their field, researching the cellular mechanisms that cause neurodegeneration in Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), or Lou Gehrig’s disease, and frontotemporal dementia (FTD). By combining expertise in drug discovery, cell biology and induced pluripotent stem cell (iPSC) modeling, his lab aims to develop therapies for the treatment of diseases characterized by abnormal protein aggregation. Dr. Petrucelli’s team recently discovered a new therapeutic target and biomarker with the aim of improving the diagnosis and prognosis for patients suffering from FTD and ALS. His team’s research has been published in top tier journals including Science, Nature Medicine, Nature Neuroscience, Neuron, and Annals of Neurology.
Dr. Petrucelli is principal investigator for several grants funded by the National Institutes of Health (NIH) including R35 and is director of two funded NIH programs focused on c9orf72 and tau. He serves on the Scientific Advisory and is vice-chair to the Florida Alzheimer’s Disease Research Grant Advisory Board.