Rare Genetic Disease: Models and Mechanisms from thescientistllc on Vimeo.

Establishing research models for any human disease is tricky business - more so for rare genetic diseases such as ataxia, telangiectasia, progeria, Paget’s disease, and Rett syndrome. Researchers focused on model organisms such as Caenorhabditis elegans, Drosophila, mice, zebrafish, and yeast rarely connect with clinicians who report a rare genetic disease. Yet, studies on model organisms have provided pivotal insights into the mechanisms of several rare genetic diseases. For a detailed discussion on insights gained from model organisms used in understanding a wide spectrum of rare genetic diseases, The Scientist is bringing together a panel of experts to share their research, and to highlight the challenges and advantages in utilizing specific model organisms. Attendees will learn how model organisms can be utilized to parse complex mechanisms underlying rare genetic disease from renowned experts in our interactive setting.


  • Modeling Rett syndrome using mice
  • Tanks to bedside: examples of disease modeling in zebrafish

Meet the Speakers:

Monica Justice, PhD
Program Head and Senior Scientist
Genetics & Genome Biology Program, SickKids Research Institute
Professor of Molecular Genetics, University of Toronto
Scientific Director, The Centre for Phenogenomics

Shawn Burgess, PhD
Senior Investigator
Head, Developmental Genomics Section
National Human Genome Research Institute
National Institutes of Health

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