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 high-morbidity, often life-threatening disorders that are poorly understood, under-recognized, and have little evidence-based therapies. 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.
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