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Bio/Research
My research focuses on the identification and characterization of heritable mutations that affect the nervous system. Research projects vary from genetic mapping of rare (Mendelian) disease mutations and characterization of their downstream consequences to the study of common heritable disorders ...
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Bio/Research
My research focuses on the identification and characterization of heritable mutations that affect the nervous system. Research projects vary from genetic mapping of rare (Mendelian) disease mutations and characterization of their downstream consequences to the study of common heritable disorders using mouse models as well as genomic and bioinformatic approaches.
Study of rare genetic disorders has focused broadly on neurological disorders including the spinal muscular atrophies (motorneuron disease), different forms of epilepsy, and Wilson disease, a defect in copper transport that primarily affects the liver, but leads to neuropsychiatric symptoms when toxic levels of copper accumulate in the brain.
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Study of rare genetic disorders has focused broadly on neurological disorders including the spinal muscular atrophies (motorneuron disease), different forms of epilepsy, and Wilson disease, a defect in copper transport that primarily affects the liver, but leads to neuropsychiatric symptoms when toxic levels of copper accumulate in the brain.
Click to Shrink <<