Distinguished Professor, Pathology
School of Medicine

Distinguished Professor, Neurology
School of Medicine

Distinguished Professor, Biological Chemistry
School of Medicine

Associate Dean
School of Medicine

Neurodegeneration, neurotherapeutics, neurogenetics, translational neuroscience

My research is focused upon neurodegenerative disease, as my lab is seeking the molecular events that underlie neurodegeneration and neuron cell death in spinocerebellar ataxia type 7, spinal & bulbar muscular atrophy, Huntington’s Disease, ALS, Parkinson’s disease, and Alzheimer's disease. My team has uncovered evidence for transcription dysregulation, perturbed bioenergetics, and altered protein quality control as contributing factors to neuron dysfunction. By reproducing molecular pathology in mice and in neurons, astrocytes, microglia, and skeletal muscle cells derived from human patient stem cells, we have begun to develop therapies to treat these disorders.

Among my awards are the Paul Beeson Physician Faculty Scholar Aging Research Award. In 2006, I was inducted into the American Society for Clinical Investigation. In 2007, I was bestowed with the Lieberman Award by the Hereditary Disease Foundation for excellence in Huntington’s Disease research, and in 2011, I received the Molecular Mechanisms of Neurodegeneration Distinguished Research Award in Milan, Italy. In 2013, I was inducted into the Association of American Physicians, and in 2015, I was selected as a Gund-Harrington Scholar for my translational research accomplishments. In 2018, I became a funded member of the Chan Zuckerberg Initiative’s Neurodegeneration Challenge Network, after an international competition, and in 2019, I was selected to present the Sayer Lecture at the National Eye Institute at the N.I.H.

I graduated Summa Cum Laude from the University of Pennsylvania with a degree in Biology in 1986. While a M.D. - Ph.D. student at the University of Pennsylvania School of Medicine, I identified the cause of X-linked spinal & bulbar muscular atrophy (SBMA) as an expansion of a trinucleotide repeat in the androgen receptor gene. As the first disorder shown to be caused by an expanded repeat tract, this discovery of a novel type of genetic mutation led to the emergence of a new field of study. After completing training as a Clinical Genetics fellow and a Howard Hughes Medical Institute Physician Postdoctoral Fellow, I joined the faculty at the University of Washington Medical Center in 1998, and became a Professor of Laboratory Medicine, Medicine (Medical Genetics), Pathology, and Neurology (Neurogenetics). In 2009, I accepted the position of Professor and Division Head of Genetics in Pediatrics, Cellular & Molecular Medicine, and Neurosciences at the University of California, San Diego, and was a founding faculty member of the UCSD Institute for Genomic Medicine and Sanford Consortium for Regenerative Medicine. I was then recruited as the founding Director of the Duke Center for Neurodegeneration & Neurotherapeutics, was appointed Distinguished Professor of Neurology, Neurobiology, and Cell Biology, and held the Lincoln Financial Endowed Chair at the Duke University School of Medicine. In 2020, I joined the faculty of the University of California Irvine as Distinguished Professor of Pathology & Laboratory Medicine and Neurology, and founded the UCI Institute for Neurotherapeutics which I direct. I also currently serve as the Associate Dean for Research Development at the UC Irvine School of Medicine.

Cellular and Molecular Biosciences

Interdepartmental Neuroscience Program

UCI Institute for Neurotherapeutics

Link to this profile
https://faculty.uci.edu/profile/?facultyId=6967

Last updated
05/11/2021