A RaDiCAL Gene Hunt
Journal of Taibah University Medical Sciences, Volume 12, Issue 3, Pages 194–198, June 2017
5 Pages Posted: 19 Jun 2017
Date Written: January 19, 2017
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.
Keywords: Genes; Mendelian Diseases; Proband; RaDiCAL; Right Not to Know
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