Joshua Milner is a leader in the field of discovery and immunopathogenesis of genetic diseases that lead to allergic symptoms. Among the disorders he has described and/or found major mechanistic insight are PLAID—an immune disorder that leads to lifelong cold urticaria, the glycosylation disorder PGM3 deficiency, ERBIN mutation, CARD11 dominant negative mutations, STAT3 gain-of-function, Hereditary Alpha Tryptasemia Syndrome, IL-6 receptor deficiency, and others. Dr. Milner graduated with an SB in biology from the Massachusetts Institute of Technology (MIT) in 1995 and an MD with distinction in immunology from the Albert Einstein College of Medicine. He completed his residency in pediatrics at the Children’s National Medical Center in Washington, DC, and, as the recipient of the Pediatric Scientist Development Program Fellowship, did his fellowship in allergy and immunology at NIAID. He completed a postdoctoral fellowship with Dr. William E. Paul, NIAID, examining issues of mouse T-cell receptor repertoires before beginning as an investigator in the Laboratory of Allergic Diseases in the NIAID, where he was eventually named chief.
Dr. Milner's vision is to establish how genetic variation can help inform diagnosis and care of all patients with allergic disease—rare and common, severe and mild. This is achieved by performing genetic sequencing on samples from patients with allergic disease of all sorts, as well as performing functional studies on the same patient samples, which together help point to specific immune pathways that may be fundamentally causing disease. This comprehensive analysis, when performed in larger populations, will help personalize medicine so that patients can be better categorized for targeted care. Furthermore, this type of research and care requires a coordinated and comprehensive interdisciplinary approach, taking advantage of the expertise across the department of pediatrics and at multiple outpatient sites.
