Studies of the basic mechanisms of Mendelian diseases offer insight into general principles that underly human health and disease. The overall long-term goal of Wangler Lab is to improve our understanding of the molecular pathogenesis of Mendelian disease by merging clinical observations, genomics and model organisms. We are currently engaged in three major efforts:

  1. Gene Discovery in Mendelian Disorders
  2. Model Organisms and the Molecular Pathogenesis of Mendelian Disorders
  3. Mendelian Disorders of the Peroxisome and Organelle Dynamics