Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

The Genome Solver Project: Faculty Training and Student Performance Gains in Bioinformatics.

Bioinformatics brings together biology, mathematics, statistics, and computer science to analyze biological sequence information. Anyone with a computer, access to the Internet, and basic training in this field can contribute to genomics research. Yet many biology faculty feel they lack training in the use of bioinformatics tools and therefore include little bioinformatics content in their courses. To overcome this challenge, the Genome Solver Project was created to empower undergraduate faculty by offering training and resources for creating hands-on bioinformatics course materials. In this study, we show the results of one survey completed directly after the workshop and a further follow-up survey to gain insight into the impact the workshop had on faculty willingness to include bioinformatics content in their courses and what challenges they still faced. We also measured student performance at five different institutions using a 20-question multiple-choice quiz delivered before and after bioinformatics instruction. Data collected from 640 students at these five schools demonstrated student performance increased, suggesting that bioinformatics training workshops can be an effective means of encouraging faculty to engage in bioinformatics instruction and positively influence student learning.

Using clickers for clinical reasoning and problem solving.

This project explored how an audience response system (clickers), combined with case-based questions, resulted in increased student engagement, attention, and participation in an introductory clinical nursing course. Clicker questions and ensuing discussion were designed to enable students to practice reasoning through patient situations before entering the clinical setting. Findings suggest that nuanced discussion of all possible answers encouraged students to think more deeply about their initial answers and opened them up to new reasoning processes.

Non-science majors gain valuable insight studying clinical trials literature: an evidence-based medicine library assignment.

When faced with a diagnosis, it is empowering to be able to assess the evidence of treatment effectiveness and safety. To teach this skill to non-science majors, we assigned the "Responsible Patienthood Project" (RPP). For the RPP, students studied an array of disease and treatment literature: the final product of their work was a poster presentation, in which they did an in-depth analysis of one primary article, thus encouraging critical evaluation of experimental design, methods, and conclusions. Post-RPP, there was a 35% decrease in the student perception that they would unquestioningly accept a recommended treatment for a hypothetical diagnosis, and a 40% increase in the perception that they would consult a combination of resources, including primary articles. We recommend this project based on our results that suggest 1) non-science majors are able to successfully access and assess primary scientific literature, 2) students felt empowered by the RPP, and 3) skills in information gathering, via library instruction, may serve as a particularly helpful lifelong learning tool.