Dataset Information

A RaDiCAL gene hunt.

ABSTRACT: In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease Collaboration for Autosomal Loci (RaDiCAL) studies the rarest diseases, where occasionally only a single proband is available to identify putative disease-causing genes. This article reviews how "RaDiCAL" addressed some of the challenges in generating informed consent documents for international participants and considers the emerging topic of the "right not to know" in study design.

SUBMITTER: Pupavac M

PROVIDER: S-EPMC6694981 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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A RaDiCAL gene hunt.

Pupavac Mihaela M Zawati Ma'n H MH Rosenblatt David S DS

Journal of Taibah University Medical Sciences 20170119 3

In the past several years, rare disease consortia have embarked on the discovery of disease-causing genes for Mendelian diseases using next generation sequencing approaches. Despite the success of these large-scale initiatives, many diseases still have no identified genetic cause. The Rare Disease Collaboration for Autosomal Loci (RaDiCAL) studies the rarest diseases, where occasionally only a single proband is available to identify putative disease-causing genes. This article reviews how "RaDiC ...[more]

PMID: 31435239

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Project description:ObjectivesResearch and evidence-based medicine (EBM) education are important elements of emergency medicine (EM) residency training; however, curricular time is limited and integrating novel strategies to engage learners and improve understanding of complex concepts is challenging. We sought to develop a unique research escape hunt educational experience to teach EM residents basic research and EBM skills using an active-learning, team-based strategy.MethodsA nine-station escape room-scavenger hunt was designed around educational content including (1) predictive statistics and diagnostic test characteristics, (2) interpretation of data and statistical analysis, (3) study design, (4) informed consent for research, and (5) the ethical principles guiding research. Stations required participants to use a variety of strategies to solve puzzles, with a correct response required to progress through the escape hunt. Teams worked together to solve each station's puzzles, with opportunities to reinforce the content in real time. Subsequent sessions were presented in a virtual format using Zoom breakout rooms over the past 2 years.ResultsPostactivity assessments were grounded in Kirkpatrick's model and focused on participants' reactions, learning, and behavior. Participants reported high levels of satisfaction (100% [21/21] "satisfied" or "extremely satisfied") and engagement (95% [20/21] "engaged" or "very engaged") with the activity, as well as increased comfort with the research and EBM concepts covered (91% [19/21] "agree" or "strongly agree" increased comfort), and demonstrated improvements in knowledge across each content area presented (91% [19/21]).Reflective discussionThis practical, team-based curriculum was found to be a successful way to engage residents with research methodology and EBM content. This curriculum is feasible for both in-person and virtual formats and we will continue to use this as a component of our EM residency program moving forward.

Dataset Information

A RaDiCAL gene hunt.

Publications

A RaDiCAL gene hunt.

Similar Datasets

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