Perhaps the most striking foreshadowing of the future that next generation sequencing holds for pediatric patients came in 2010 in the widely publicized case of Nicolas Volker.65 This patient was afflicted by a progressive, inflammatory bowel disease-like condition that resulted in need for repeated abdominal surgery and severe, progressive, debility. Sequencing of his and his parents’ genomes revealed a defect in XIAP (X-linked inhibitor of apoptosis protein) in Nicolas. Subsequent to the discovery, a bone marrow stem cell transplant resulted in cure.
