Ann & Robert H. Lurie Children's Hospital of Chicago Box 212
225 E Chicago Avenue
Chicago IL 60611
I am on the medical staff at the following Feinberg-affiliated hospital(s)
Description of Interests
Dr. Pachman's translational team studies Juvenile Myositis (JM), an often chronic pediatric systemic vasculopathy associated with skin inflammation and proximal muscle weakness of unknown etiology. Her laboratory has identified genetic and environmental factors that play a role in the onset of symptoms and govern outcome. Gene expression micro array studies of untreated children's diagnostic muscle biopsies identified massive dysregulation of IFN-a induced genes in JDM. Epigenetic and miRNA studies of diagnostic muscle biopsies indicate critical differences associated with disease duration. Dr. Pachman’s search for clinically useful biomarkers of immune activation has identified CD3- natural killer cells and von Willebrand factor antigen, released from damaged endothelial cells. Current investigations focus on genetic differences (RNASeq; miRNA) between induced pluripotent stem cells from monozygotic twins discordant for JM and a healthy control This is of relevance for with chronic inflammation, for there is progressive endothelial damage reflected by loss of nailfold capillary end row loops (they have developed a quantitative system of nailfold capillary analysis) associated with lack of absorption of oral prednisone. Her lab maintains a patient-derived CureJM Repository of diagnostic muscle and skin biopsies, sequential sera, peripheral blood lymphocytes and dystrophic calcifications samples keyed to a sequential database and an analytical database software and bio-informatics system for over 500 children with Juvenile Myositis.
In summary, this intensive research effort broadens the clinical, genetic and immunological characterization of the child with JM, which is a critical aid in guiding current therapy and may lead to novel targeted interventions.
Autoimmunity; Epidemiology; Immune Regulation; Immunogenetics; Inflammation; Pediatric Rheumatology; Vascular Biology
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