Genome Editing for Rare Diseases
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GENOME EDITING (Y FAN & J CHAN, SECTION EDITORS)
Genome Editing for Rare Diseases Arun Pradhan 1,2 & Tanya V. Kalin 2,3 & Vladimir V. Kalinichenko 1,2,3,4
# Springer Nature Switzerland AG 2020
Abstract Purpose of the Review Significant numbers of patients worldwide are affected by various rare diseases, but the effective treatment options to these individuals are limited. Rare diseases remain underfunded compared with more common diseases, leading to significant delays in research progress and ultimately, to finding an effective cure. Here, we review the use of genomeediting tools to understand the pathogenesis of rare diseases and develop additional therapeutic approaches with a high degree of precision. Recent Findings Several genome-editing approaches, including CRISPR/Cas9, TALEN, and ZFN, have been used to generate animal models of rare diseases, understand the disease pathogenesis, correct pathogenic mutations in patient-derived somatic cells and iPSCs, and develop new therapies for rare diseases. The CRISPR/Cas9 system stands out as the most extensively used method for genome editing due to its relative simplicity and superior efficiency compared with TALEN and ZFN. CRISPR/Cas9 is emerging as a feasible gene-editing option to treat rare monogenic and other genetically defined human diseases. Summary Less than 5% of ~ 7000 known rare diseases have FDA-approved therapies, providing a compelling need for additional research and clinical trials to identify efficient treatment options for patients with rare diseases. Development of efficient genome-editing tools capable to correct or replace dysfunctional genes will lead to novel therapeutic approaches in these diseases. Keywords Genome editing . Rare diseases . Gene therapy . CRISPR/Cas9
Introduction A rare disease (also known as orphan disease) affects a relatively small percentage of patients in the general population. There are approximately 7000 different types of rare diseases worldwide, which altogether account for significant numbers of patients and substantial healthcare cost [1–3, 4••]. There is no universal definition for rare diseases. For example, a rare This article is part of the Topical Collection on Genome Editing * Vladimir V. Kalinichenko [email protected] 1
Center for Lung Regenerative Medicine, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
2
Division of Pulmonary Biology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
3
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA
4
Division of Developmental Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
disease in the USA is defined as a condition that affects fewer than 200,000 people, whereas the European Union uses a frequency of < 1 patient per 2000 people as a definition for rare diseases [3]. Although individual occurrences of these diseases are rare, they cumulatively affect a significant proportion of the human population, accounting
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