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, immunologic and environmental factors that play a role in the onset of symptoms and govern outcome. RNASeq, miRNA and Gene expression micro array studies of untreated children's diagnostic muscle biopsies identified massive dysregulation of IFN-a induced genes in...[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, immunologic and environmental factors that play a role in the onset of symptoms and govern outcome. RNASeq, miRNA and 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, as well as proteomic markers associated with disease activity. 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 (we have developed a quantitative system of nailfold capillary analysis) associated with impaired drug absorption, such as oral prednisone. Her lab maintains a patient-derived CureJM Registry now available in REDCap as well as a JM Repository containing diagnostic muscle and skin biopsies, sequential sera, peripheral blood lymphocytes and dystrophic calcifications samples keyed the bio-informatics system for over 600 children with Juvenile Myositis.
In summary, this intensive research effort broadens the clinical, genetic and immunological characterization of the child with JM, which will be a critical aid to guide 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. Biomarkers--proteomic and genetic of disease activity and response to therapy
Keywords
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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
Contact
312-227-6270
Ann & Robert H. Lurie Children's Hospital of Chicago Box 212
225 E Chicago Avenue
Chicago IL 60611
pachman( at )northwestern.edu
