About the Lab

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



Recent Posts

  • On Rare Disease Day, Remember What Family Organizations Can Do

    Families who receive a new rare disease diagnosis face seemingly insurmountable challenges. The basic questions that come from any diagnosis, like “what does this mean?” “What is the treatment?” “What should we expect?” are often not known to even the doctors and nurses involved. Learning of a diagnosis for which very little is known and […]

    The doctor in training often hears, “If you hear hoofbeats, think horses not zebras” a practical guideline designed to keep a doctor focused on succeeding at the fundamentals in diagnosis and making the most likely diagnoses consistently rather than being distracted by over-thinking.  As a medical geneticist it is refreshing to dedicate a day to […]