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J Taibah Univ Med Sci. 2017 Jan 19;12(3):194-198. doi: 10.1016/j.jtumed.2016.11.007. eCollection 2017 Jun.

A RaDiCAL gene hunt.

Author information

1
Department of Human Genetics, McGill University, Montreal, Québec, Canada.
2
Centre of Genomics and Policy, McGill University, Montreal, Québec, Canada.

Abstract

in English, Arabic

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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