The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

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Authors

Dominique P. Germain · Université de Versailles Saint-Quentin-en-Yvelines

Sergey Moiseev · Sechenov University

Fernando Suárez‐Obando · Pontificia Universidad Javeriana

Faisal Al Ismaili · Royal Hospital

Huda Al Khawaja · Saad Specialist Hospital

Gheona Altarescu · Shaare Zedek Medical Center

Fellype Carvalho Barreto

Abstract

In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.

Topics & Keywords

Lysosomal Storage Disorders Research Glycogen Storage Diseases and Myoclonus Trypanosoma species research and implications

UN Sustainable Development Goals

Industry, innovation and infrastructure

Publication Details

Published in: Molecular Genetics & Genomic Medicine

Volume 9, Issue 5, pp. e1666-e1666

DOI: 10.1002/mgg3.1666

Field-Weighted Citation Impact: 5.52