Reclassification of diseases improves understanding and outcomes

2011

Challenge

Little is known about the causes or how to treat a group of rare heterogeneous autoimmune muscle diseases called idiopathic inflammatory myopathies, including Dermatomyositis, Polymyositis, and Inclusion Body Myositis. For unknown reasons, these diseases are increasing in prevalence in both children and adults, and a better understanding of their pathogenesis, underlying genetics, and molecular basis is urgently needed.

Advance

IRP researchers led by Frederick W. Miller, M.D., Ph.D., took a novel approach to understanding these heterogeneous syndromes and showed that the genetic and environmental risk factors, symptoms, and responses to therapy and prognosis can be predicted by categorizing the syndromes into mutually exclusive and stable phenotypes based on clinical and immune response features.

Impact

Redefining autoimmune muscle diseases into novel phenotypes has advanced the understanding of their unique pathogenesis and helped clinicians to recognize and manage these debilitating disorders.