Diagnosing Rare Diseases Brings New Treatments to Patients: Education for Advanced Care Practitioners

Barbara K. Burton, MD, presents an approach to recognizing lysosomal storage disorders (LSDs). Difficulty recognizing LSDs is a major barrier to their treatment, and Dr. Burton illustrates how clinicians can spot missed- or mis-diagnosed LSDs using 5 case studies. The disorders that Dr. Burton focuses on are LSDs that have treatments available or in late-stage clinical trials. After focusing on the diagnostic approach to recognizing LSDs she demonstrates the impact early recognition and treatment has on patients.

This course does not offer CE credit.

  • Barbara K. Burton, MD

    Attending Physician, Genetics, Birth Defects & Metabolism
    Division of Genetics, Birth Defects and Metabolism
    Ann & Robert H. Lurie Children’s Hospital
    Chicago, Illinois