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

See all articles by Michaela Pupavac

Michaela Pupavac

McGill University - Department of Human Genetics

Ma'n H. Zawati

McGill University - Centre of Genomics and Policy

David Rosenblatt

McGill University

Date Written: January 19, 2017

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.

Keywords: Genes; Mendelian Diseases; Proband; RaDiCAL; Right Not to Know

Suggested Citation

Pupavac, Michaela and Zawati, Ma'n H. and Rosenblatt, David, A RaDiCAL Gene Hunt (January 19, 2017). Journal of Taibah University Medical Sciences, Volume 12, Issue 3, Pages 194–198, June 2017, Available at SSRN: https://ssrn.com/abstract=2988034

Michaela Pupavac

McGill University - Department of Human Genetics ( email )

3640 rue University
Rm W-315, Strathcona Anatomy & Dentistry Building
Montréal, QC H3A 0C7
Canada

Ma'n H. Zawati (Contact Author)

McGill University - Centre of Genomics and Policy ( email )

740 Dr. Penfield Avenue, Suite 5200
Montreal, Quebec H3A 0G1
Canada

David Rosenblatt

McGill University ( email )

1001 Sherbrooke St. W
Montreal, Quebec H3A 1G5
Canada

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