Northwestern University Feinberg School of Medicine

Center for Genetic Medicine

Lauren M Pachman, MD

Lauren M Pachman, MD

Professor of Pediatrics (Rheumatology)

Focus of Work

Bio

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 stud...[Read full text]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.[Shorten text]

Academic Focus

1. Immunogenetics of Juvenile Dermatomyositis associated with individual Myositis Specific Antibodies and a range of disease activity. 2. Endothelial cell dysfunction in children with JDM

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Education and Certification

  • MD: University of Chicago (1961)
  • Internship: Philadelphia General Hospital, Rotating (1962)
  • Residency: Columbia Presbyterian Medical Center, Pediatrics (1964)
  • Board Certification: Allergy & Immunology, Pediatrics