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AUSTRALIA

Fundamental Biology

Mouse Models

We currently have two Researchers building mouse models.

Professor Konark Mukherjee discusses his animal mouse model and his findings. He also continues to address his Therapeutic Project which is part of our Translational Research. 

Professor Jill Silverman of UC Davis California will be developing a mouse model for the second phase of the Gene Therapy Cure CASK Project utilising JAX Labs. This will include assessing the ability of the therapeutic to reactivate the healthy copy of Cask in the brain of mice and test the level of recovery this approach could have.

Induced Pluripotent Stem Cells – (iPSC)

IPSC’s are like magical cells that scientists can create from regular cells, like skin cells or blood cells. What’s amazing about them is that they can turn into almost any type of cell in the body, like brain cells.

These iPSCs are super important because they allow scientists to make cells that have the same problems as the ones in people with CASK. This means they can study these cells in a dish and try out different treatments to see what might work to help those with CASK.

So, helping scientists learn more about CASK and find new ways to treat CASK.

Moving Forward

We are working together with members of the CASK Coalition to ascertain the best possible options to develop a variety of these cell lines  (Patient-Derived) internationally  so scientists can study these cells and gain insight into the underlying mechanism of the disease, offer a platform for possible drug screening and development, and biomarker discovery.

Do any of our current research projects have iPSC lines?

Yes, the CASK Coalition Gene Therapy Project will have 3 cell lines.

“In some ways, that CASK-linked pathology is degenerative in nature provides a positive outlook. Because microcephaly in CASK-linked pathology progresses postnatally, there may be a temporal window when therapeutic intervention might prevent or slow further brain cell loss. Regression, even in adolescence, has also been observed in some cases of MICPCH [119], again offering the tantalizing possibility that a therapeutic approach might prevent such decline under conditions when degeneration is known to progressThe potential benefits of intervention might extend even further given that non-cell-autonomous toxicity could also affect functioning of the remaining neurons; reduction of such toxicity, especially when coupled with high-intensity rehabilitative measures [120], might offer real hope for a positive impact on functional outcomes.”   

https://www.mdpi.com/2073-4409/11/7/1131/htm