Rare Disease Models

With the rapid development of sequencing technology and gene therapy, more and more rare diseases have the opportunity to transition from bench to clinic in terms of understanding their pathogenic mechanisms and treatment methods. In this process, animal models that possess disease homology, phenotypic consistency, and drug predictability, especially genomically humanized mouse models, play an important role in advancing the study of disease mechanisms, drug target research, and drug efficacy evaluation. Leveraging the advantages of our gene editing platform, Cyagen has developed a series of rare disease models in mice, such as gene knockout, gene knock-in, point mutations, and humanized mice, accelerating the progress of rare disease drug efficacy verification.


Rare Disease HUGO-GTTM Models: HUmanized Genomic Ortholog for Gene Therapy

About 80% of rare diseases have a genetic component, and 15% of pathogenic mutations occur within non-coding regions. Traditional gene editing models such as KO and transgenic models are inadequate for the research and development of novel therapeutics using technologies like CRISPR, ASOs and siRNAs that target intronic or UTR region mutations.

Therefore, there is an increasing demand for a new generation humanized models with replacement of endogenous genes with the entire genomic sequence of the genes of interest. To meet this increasing demand, Cyagen launches the HUGO-GT (HUmanized Genomic Ortholog for Gene Therapy) humanization program to develop the next-generation humanized mouse models using our proprietary TurboKnockout technology to replace the whole mouse genomic sequence (including exons, introns, UTRs and/or promoters) of the genes of interest with the human orthologues.

We aim to provide the gene therapy community with the most suitable and clinically relevant mouse models.

This model can be compared at the mRNA, protein, and functional levels and meet experimental needs for pharmacokinetics and pharmacodynamics.


Cyagen's genomically humanized models: HUGO-GTTM mice possess the following characteristics:

  • The replacement region covers entire genomic sequence, which includes exons, introns, and UTR regions.
  • Hotspots mutation based on genomically humanized model mimics the occurrence of human diseases, which serve as a control with the wild-type genomically humanized animals.
  • Custom mutation services for wild-type genomically humanized models are available.
  • Model phenotypes are stable and heritable.
  • TurboKnockout gene editing technology has the advantages of no off-target, no patent risk, accurate modification, and short cycle.


Other Gene Editing Models

In addition to HUGO-GTTM models, Cyagen has also developed a series of gene editing models, including gene knockout, knock-in, point mutations, etc. These models can be customized or collaboratively developed based on the needs of scientists and can be applied to various hot research fields, such as ophthalmology, neurology, muscle, hepatology, metabolic, and blood diseases.


Research Fields Disease Names
Ophthalmology Retinitis pigmentosa, congenital achromatopsia, complete achromatopsia, etc.
Neurology Parkinson's disease, amyotrophic lateral sclerosis, Huntington's disease, etc.
Muscle Myotonic dystrophy type 1, Duchenne muscular dystrophy, Danon disease, etc.
Liver Glycogen storage disease type I, hepatolenticular degeneration, progressive familial intrahepatic cholestasis, etc.
Metabolism Biotinidase deficiency, homocystinuria, Fabry disease, etc.
Blood Fanconi anemia, thrombocytopenia, hemophilia A, etc.
Others Laron syndrome, Marfan syndrome, melanoma, etc.