Dr. MacDonald, a molecular geneticist, earned a Ph.D. in Medical Biophysics at the University of Toronto in 1980. Her laboratory utilizes genetic strategies to understand the key underpinnings of inherited brain disorders in cross-discipline collaborative studies. A major focus is Huntington’s disease, with projects led by laboratory members Jacob Loupe, Ph.D., Jayalakshmi Mysore, B.Sc., Tammy Gillis, B.Sc., Douglas Barker, Ph.D., Kevin Correia, M.Sc., Charles Eyermann, B.A., Randy Atwal, Ph.D.

Questions being addressed in the lab

  1. Genes that cause and modulate human brain disorders
  2. Disease processes that underlie symptoms
  3. Patients, families, researchers and the lay public

Projects underway to answer these questions

  1. Genetic analyses: unbiased search for Huntington’s disease modifiers  

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  3. Systems genetics: Huntington’s disease allelic series

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  6. Genotype-phenotype: Huntington’s disease families, clinicians, researchers

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Answers Found

  1. Huntington’s disease motor onset modifier genes located. Top locus does not modify disease duration. 

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  4. Huntington’s disease CAG repeat mutation elicits effects from conception  

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  7. We contribute: education, advocacy, research, the clinic

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