Rosa Rademakers, Ph.D.
Rosa Rademakers, Ph.D.
Dr. Rademakers' research within the Department of Neuroscience is centered around the molecular genetic analyses of neurodegenerative diseases with a main focus on Frontotemporal Dementia (FTD) and Amyotrophic lateral sclerosis (ALS).
Her laboratory seeks to identify novel causal genes, as well as genetic risk factors using family-based genetics and association analyses in well-characterized patient populations. To better understand the function of newly identified genes and mutations, and the mechanism associated with neurodegeneration her laboratory further employs in-vitro molecular approaches. Another recent research focus is to study the role of microRNAs in the development of FTD and related neurodegenerative diseases. Her research is funded through many agencies including the Mayo Clinic Alzheimer's Disease Research Center (NIH AG16574),the National Institute for Neurological Disorders and Stroke (NS065782), The FTD Association (AFTD), The ALS Association (ALSA), CurePSP and the Consortium for Frontotemporal Dementia.
Dr. Rademakers' work in FTD families led to the discovery of mutations in progranulin (GRN) as a major cause of early-onset dementia. Since then, her laboratory played an important role in the identification and characterization of mutations in GRN, in the identification of GRN as a genetic risk factor of FTD through altered microRNA regulation and in the development of a GRN ELISA as a simple blood test to identify mutations in symptomatic and presymptomatic mutation carriers. In ALS patient populations her laboratory identified novel mutations in the recently discovered genes encoding the TAR DNA-binding protein 43 (TARDBP) and fused in sarcoma (FUS), including the first patient with a de novo FUS mutation.
Overall, the neurogenetic studies performed in her laboratory are expected to improve molecular diagnostic accuracy and counseling, including the development of early disease biomarkers. Identification of novel disease genes may further reveal novel targets that can be exploited for therapeutic actions aimed at preventing or delaying the development of FTD and related disorders.
Post Doctoral Fellowship
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