RNA Metabolism in Neurodegenerative Diseases

Rita Sattler is an Associate Professor of Neurobiology at the Barrow Neurological Institute in Phoenix, AZ. She received her master and doctorate degree in Neurophysiology from the University of Toronto in Toronto, Canada where she studied mechanisms of neurodegeneration in stroke. As a postdoctoral fellow at Johns Hopkins University, Dr. Sattler focused her research on studies of synaptic biology and glutamate receptor function. Her current research combines her expertise in neurodegeneration and synaptic function, and is aimed at the elucidation of synaptic dysfunction in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The Sattler laboratory primarily uses human patient-derived induced pluripotent stem cells differentiated into neurons and glial cells as a disease models and employs state of the art molecular, biochemical, physiological and imaging technologies to identify novel disease pathways and therapeutic targets.Christopher Donnelly is an assistant professor of neurobiology and a member of the Live Like Lou Center for ALS Research at the University of Pittsburgh School of Medicine in Pittsburgh, PA. He received his Ph.D. in Molecular Biology and Genetics at the University of Delaware where he studied RNA trafficking and local translation during axon regeneration. As a postdoctoral fellow at Johns Hopkins University School of Medicine, Dr. Donnelly employed patient derived induced pluripotent stem cell (iPSCs) neurons to study the pathogenic mechanisms underlying mutations that cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). These studies revealed RNA-based mechanisms of neurotoxicity and defects in the nucleocytoplasmic transport pathway as drivers of disease. Dr. Donnelly’s lab at the University of Pittsburgh currently focuses on employing human iPSC-derived cultures and Drosophila models to elucidate the pathogenic mechanism that contributeto neurodegeneration. Specifically, his lab studies how genetic mutations alter nucleocytoplasmic transport of RNA and proteins and developed a photokinetic approach to understand the triggers and consequences of intracellular protein aggregation that are pathological hallmarks of neurodegenerative diseases.

• RNA Metabolism in Neurodegenerative Diseases.- Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes.- RNA Editing Deficiency in Neurodegeneration.- RNA Nucleocytoplasmic Transport Defects in Neurodegenerative Diseases.- RNA Degradation in Neurodegenerative Disease.- RNP Assembly Defects in Spinal Muscular Atrophy.- Stress Granules and ALS: A Case of Causation or Correlation?.- Deregulation of RNA Metabolism in Microsatellite Expansion Diseases.- Mechanisms Associated with TDP-43 Neurotoxicity in ALS/FTLD.- Senataxin, a Novel Helicase at the Interface of RNA Transcriptome Regulation and Neurobiology: From Normal Function to Pathological Roles in Motor Neuron Disease and Cerebellar Degeneration.- Lost in Translation – Evidence for Protein Synthesis Deficits in ALS/FTD and Related Neurodegenerative Diseases.