Rare Pediatric Respiratory Disorders, including childhood interstitial and diffuse lung diseases (chILD), primary ciliary dyskinesia (PCD) and lung involvement in systemic juvenile inflammatory arthritis (sJIA) are rare, high-morbidity, often life-threatening disorders that are poorly understood, under-recognized, and have little evidence-based therapy. Adult diagnosis and treatment paradigms do not generally apply to these challenging clinical problems. Many of these rare disorders hold clues to understanding normal lung biology, and may unravel aspects of more common diseases. Extremely rapid advancements in genomics and other systems biology techniques have revolutionized the diagnosis of rare diseases and in many cases led to new and unexpected treatments. Breakthroughs in other rare diseases have recently been catalyzed by the efforts of passionate patient advocacy groups working closely with research teams. This conference will bring together leaders from clinical, basic science, and biotechnology fields, together with rare disease family advocates, to promote novel cross-cutting approaches and scientific breakthroughs for these clinically vexing disorders.


Upon completion of this activity, participants should be able to:

  • Recognize the major categories of rare pediatric respiratory disorders, and the major gaps in research related to these disorders
  • Discuss the critical roles of advanced genomics, epigenomics, and systems biology in diagnosis, improved understanding, and developing treatments
  • Describe the opportunities afforded by stem cell biology, regenerative medicine, tissue engineering and gene editing in understanding disease mechanisms and finding novel targets

Target Audience

All clinicians and scientists with an interest in rare pediatric respiratory disorders, as well as interested family and patient advocates, are welcome (and encouraged) to attend this conference. We also welcome anyone with interest in rare diseases, genomic diagnosis, functional genomics, systems biology, and disease modeling.

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Content is subject to change without notice. Please refer to the activity website for the most current information.
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