Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children With Suspected Inborn Errors of Immunity

PURPOSE: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA) in children with IEI. METHODS: We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands referred for evaluation of IEI. The analysis included primary, secondary, and incidental findings. RESULTS: Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely CONCLUSION: Pairing ES and CMA can provide a comprehensive evaluation to clarify the complex factors that contribute to both immune and non-immune phenotypes. Such a combined approach to genetic testing helps untangle complex phenotypes, not only by clarifying the differential diagnosis, but in some cases by identifying multiple diagnoses contributing to the overall clinical presentation

Making the Move to Blended Learning: Reflections on a Faculty Development Program

Lessons learned from a faculty development program that preceded the move of a traditional PhD program in nursing to a blended learning model using online and face-to-face strategies are discussed. The majority of lessons and strategies presented are universal to any faculty development program. The lessons are organized into seven topics: Situational Leadership, Adult Learners, Just in Time Teaching, Thinking About Learning and Teaching, Lifelong Learning, Transparency and Collaboration, and Community. Our far-reaching lessons are related to the contextual nature of leadership, how to effectively design and time learning experiences for adults, the importance of open and supportive communities working for a common purpose, and how each person’s perspective shapes his or her learning experience and how the lessons learned are applied.</jats:p