Genome editing
- The use of genetically humanized animal models for personalized medicine approaches
Summary: Personalized medicine approaches benefit from humanized animal models. Here, we outline the usefulness, caveats and considerations for generating and using these models for pre-clinical studies of Duchenne muscular dystrophy.
- Disruption of asxl1 results in myeloproliferative neoplasms in zebrafish
Summary: Homozygous loss of asxl1 in zebrafish leads to apoptosis of newly formed HSCs by upregulation of bim and bid. Half of the asxl1+/− zebrafish had MPNs by 5 months of age.
- CRISPR/Cas9-generated mouse model of Duchenne muscular dystrophy recapitulating a newly identified large 430 kb deletion in the human DMD gene
Summary: The authors describe the creation of a mouse strain that reproduces a newly identified deletion mutation in a DMD patient in Russia, and present the characteristics of this new model.
- Spotlight on zebrafish: the next wave of translational research
Summary: Zebrafish are a highly versatile and relevant organism for human disease modelling. This Editorial highlights the recent zebrafish research published in DMM.
- From gene to treatment: supporting rare disease translational research through model systems
Summary: This Editorial discusses the importance of model systems with accurate face, construct, target and predictive validity for rare disease research.
- Generating mouse models for biomedical research: technological advances
Summary: Newer molecular technologies to precisely and efficiently manipulate the mammalian genome are enabling the production of more scientifically valuable animal models.
- CRISPR-Cas9 human gene replacement and phenomic characterization in Caenorhabditis elegans to understand the functional conservation of human genes and decipher variants of uncertain significance
Summary: Here, we provide a CRISPR-Cas9 human gene replacement and phenomic characterization strategy to directly replace Caenorhabditis elegans genes with their human orthologs for disease variant modeling and therapeutic screening.
- Modeling epigenetic modifications in renal development and disease with organoids and genome editing
Summary: In this Review, we provide an overview on how epigenetic processes are altered in kidney development and disease, and discuss how CRISPR-modified kidney organoids can help us to understand the function of epigenetic marks.
- Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders
Summary: By using a single-stranded DNA oligonucleotide template in combination with CRISPR/Cas9 in zebrafish, the authors achieved effective germline-transmissible introduction of patient-specific single-nucleotide changes related to cardiovascular disease.