Genome Editing for Rare Diseases
Arun Pradhan1,2, Tanya V Kalin2,3, Vladimir V Kalinichenko1,2,4,3
1Center for Lung Regenerative Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.
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 to more common diseases, leading to significant delays in research progress and ultimately, to finding an effective cure. Here, we review the use of genome-editing 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 to 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.
Insights
Genome-editing tools offer precise therapeutic strategies for rare diseases, addressing the limited treatment options. Technologies like CRISPR/Cas9 are advancing the development of novel cures for genetic disorders.
Area of Science:
- Genetics
- Biotechnology
- Medical Research
Background:
- Rare diseases affect many globally, yet effective treatments are scarce due to underfunding and research delays.
- Developing targeted therapies for rare diseases is a critical unmet medical need.
Purpose of the Study:
- To review the application of genome-editing technologies for understanding rare disease pathogenesis.
- To explore the potential of genome editing in developing precise therapeutic approaches for rare diseases.
Main Methods:
- Review of genome-editing tools such as CRISPR/Cas9, TALEN, and ZFN.
- Analysis of their use in generating disease models and correcting mutations in patient cells.
Main Results:
- Genome-editing tools have been successfully employed to model rare diseases and correct pathogenic mutations.
- CRISPR/Cas9 is the most utilized method due to its efficiency and simplicity.
- These technologies show promise for treating monogenic and genetically defined human diseases.
Conclusions:
- A significant gap exists in approved therapies for rare diseases, highlighting the need for innovative treatments.
- Efficient genome-editing tools are crucial for developing novel therapeutic strategies to correct or replace faulty genes in rare diseases.
Related Concept Videos
01:59CRISPR
00:49What is Genetic Engineering?
02:59Animal Mitochondrial Genetics
02:23RNA Editing
01:16In-vitro Mutagenesis