Our Metabolic Rare Disease Research Model
The CHOC MRDP includes four arms: Clinical Support, Basic Science Research, Translational Science Research and Clinical Trials. Together, they create our bed-bench-bed research model, where children and families are always at the center of our work. Focusing on each individual patient, we conduct research to bring cutting-edge treatments back to the bedside of patients and their families, to improve outcomes and increase quality of life.
Our clinics are typically the “first stop,” where patients with rare metabolic diseases are evaluated, and biochemical and genetic diagnostic workup is done. Patients with disorders difficult to diagnose, as well as those affected by disorders that fit our existing programs, are considered for research protocols through the Basic Science Research arm. The Basic Science Laboratories investigate the mechanisms of the diseases and test potential treatments in cell cultures. Then, our Translational Science Research arm focuses on providing the pre-clinical data needed for FDA applications so that Clinical Trials of novel therapies may begin. Findings from Clinical Trials can then be used to innovate care for patients of our current rare disease clinics, as well as provide care for previously untreated rare disorders internationally.