Ongoing Rare Disease Efforts

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Zebrafish Models

Established and characterized models for several well-studied rare genetic diseases

Focused research on in depth mechanistic studies as well as therapy development is underway.

Involved in establishing disease-gene association by way of functional studies in cell line based and zebrafish models in collaborative mode with clinical partners.

Successfully completed disease-gene association in CCN2, mRPS2, EXOC6B

 

Therapeutic platforms

mRNA and AAV platforms for gene replacement

CRISPR-based gene editing

Model creation 

Multiple gene editing strategies to develop specific models in cell lines and zebrafish.

Established routine workflows for knockout generation.

Optimizing protocols for introduction of specific mutations with high efficiency.

Reporter lines

We create reporter lines in zebrafish using tol2 transgenesis to study specific cell types or organs during development in various models. Same strategy is being used for overexpression of genes of interest..

Presently generating a group of lines that can specifically be used to study mitochondrial and ER functions (number, ROS, mitophagy, ER stress).