Dr. Ackerman’s pioneering work using mouse genetics has identified novel genes, pathways, and networks involved in neurodevelopment and the maintenance of neuronal homeostasis and age-related death of neurons in the central nervous system. Dr. Ackerman is the Steven W. Kuffler Chair of Biology and a professor in the Neurobiology Section in the Division of Biological Sciences at the University of California, San Diego; she is also a professor in the department of Cellular and Molecular Medicine in the School of Medicine and a member of the Institute of Genomic Medicine at UCSD. She received her Ph.D. from UCLA and was a postdoctoral fellow at University of Illinois Medical School and the Wistar Institute. Prior to her move to UCSD in 2016, Dr. Ackerman was a Professor at The Jackson Laboratory in Bar Harbor, Maine, where she was a faculty member for nineteen years. She has been an Investigator of the Howard Hughes Medical Institute since 2005. She is a member of the American Academy of Arts and Sciences, the National Academy of Sciences, and the National Academy of Medicine.
Transfer RNAs as Modifiers of Neurological Phenotypes
Susan L. Ackerman
To identify the underlying molecular causes of neurodegeneration, our lab uses a forward genetic approach in mice. Importantly, this phenotype-driven approach allows the identification, without a priori assumptions, of molecules critical to these processes. However, the specific role of these molecules in neuronal homeostasis can be difficult to ascertain, particularly for molecules without defined function. To enable our definition of the biological pathways that when disrupted by mutations result in neurodegeneration, we have utilized forward genetics to identify modifier genes. In brief, we analyze the consequences of alleles of various inbred mouse strains to identify genes which alter neuron death mediated by chemically-induced or spontaneous mutations. These modifier genes and our accompanying biochemical and genomic studies have helped pinpoint novel pathways involved in neuronal homeostasis in the aging brain. In particular, we have identified modifier genes that alter phenotypes resulting from mutations that change the progression of ribosomes on mRNAs or change the fidelity of tRNA charging, and have shown that the expression pattern of these modifier genes are responsible for the neurospecificity of these mutations.