Treatment of genetic disorders-A vision coming into focus.

Abstract

This issue of the Seminar Series is devoted to reviewing the state-of-the-art for treatment of non-metabolic genetic disorders. We begin with a primer on the design of studies in rare diseases. We then review a broad spectrum of disorders to reflect many different genetic mechanisms, including disorders stemming from a chromosomal basis as well as those due to single gene aberrations; those demonstrating principles of imprinting and mosaicism; and single organ as well as multisystem disorders. In doing so, a wide variety of treatment approaches are explained in this issue, including cell therapy, chromosome therapy, gene therapy, strategies for gene regulation with exon skipping and anti-sense oligonucleotides, stem cell modification and reintroduction, and use of genetic editing tools. The number of disorders amenable to treatment with existing methods is expanding rapidly, and is sure to increase as new strategies and tools emerge. The field of clinical genetics will be instrumental in ushering these new technologies into the realm of patient care. © 2016 Wiley Periodicals, Inc.