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CRISPR

CRISPR

Genome editing technologies allow scientists to modify an organism’s DNA via the addition, removal, or rearrangement of genetic material at specific genomic locations. These types of techniques could potentially be used to cure genetic disorders such as hemophilia and sickle cell anemia. One popular and widely used DNA-editing research tool that could lead to safe and effective cures for genetic disorders is the CRISPR-Cas9 system. CRISPR-Cas9 stands for Clustered Regularly Interspaced...

What is Genetic Engineering?

What is Genetic Engineering?

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

RNA Editing

RNA Editing

RNA editing is a post-transcriptional modification where a precursor mRNA (pre-mRNA) nucleotide sequence is changed by base insertion, deletion, or modification. The extent of RNA editing varies from a few hundred bases, in mitochondrial DNA of trypanosomes, to a just single base, in nuclear genes of mammals. Even a single base change in the pre-mRNA can convert a codon for one amino acid into the codon for another amino acid or a stop codon. This type of re-coding can significantly affect the...

In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Related Experiment Video

Updated: Nov 30, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Genome Editing for Rare Diseases.

Arun Pradhan^1,2, Tanya V Kalin^2,3, Vladimir V Kalinichenko^1,2,4,3

¹Center for Lung Regenerative Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, USA.

Current Stem Cell Reports

|November 13, 2020

Summary

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.

Keywords:

CRISPR/Cas9 Genome editing gene therapy rare diseases

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Genome Editing and Directed Differentiation of hPSCs for Interrogating Lineage Determinants in Human Pancreatic Development

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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.