MAR 20, 2014 7:00 AM PDT

Huntingtons Disease: Twenty years and counting

Presented at: Neuroscience
Speaker
  • Program Director in the Neurodegeneration Cluster, NIH/NINDS
    Biography
      Dr. Margaret Sutherland joined the NINDS in 2007 and serves as a Program Director in the Neurodegeneration Cluster at NINDS. She currently oversees research grant portfolios and programs in: i) Huntington's Disease; ii) Frontotemporal Dementia and iii) basic and clinical studies supporting the genetics, protein flux, mitochondrial dynamics, synuclein biology and stem cell based-research associated with Parkinson's Disease. Dr. Sutherland manages the CINAPS contract which is designed to support pre-clinical validation of therapeutic targets for Parkinson's Disease. She also oversees consortia focused on the development and utilization of induced pluripotent stem cell resources for advancement of basic and translational research in neurodegenerative diseases. Dr. Sutherland received her undergraduate degree in Microbiology and Immunology from the University of Western Ontario and her Ph.D. in Molecular Neuroscience from the Laboratory of Molecular Biology (LMB), Cambridge UK. She completed her postdoctoral training with Dr. Jeffrey Noebels, in the Department of Neurology, at the Baylor College of Medicine where she developed transgenic mouse models of absence seizures (overexpression of voltage-gated K+ channels) and enhanced astroglial glutamate transport. Prior to joining the NINDS, Dr. Sutherland was a faculty member in the Center for Neuroscience Research at the Children's National Medical Center (CNMC), where she directed NIH-funded research programs on excitotoxicity mechanisms in neurodegeneration and epilepsy and served as director of the CNMC Transgenic Core facility.

    Abstract

    Huntington's disease (HD) is a progressive, inherited, degenerative brain disorder that produces physical, mental and emotional changes. Named for George Huntington, the physician who first described the illness in 1872, Huntington's disease used to be known as Huntington's chorea, from the Greek for choreography, or dance. The name refers to the involuntary, jerky movements that can develop in later stages of the illness. In 1993, a consortium of scientists from six laboratories found the mutation, an expanded CAG repeat sequence, of 36 repeats or more, in exon 1 of the HTT gene on chromosome 4 that is responsible for Huntingtons disease. Since that seminal discovery many basic science advances have been made in understanding the pathways, proteins and DNA sequences that either the wild type and/or mutant protein impact. In fact, it is this plethora of possible targets that challenges current drug discovery efforts around small molecules or biologics that could either slow and/or stop the progression of this disease. This lecture will highlight unique aspects of Huntingtons disease basic, translational and clinical science that have contributed to our current knowledge of this disease and emphasize several key discoveries and technologies that are offering unique opportunities for future research and potential breakthroughs.


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