The mouse model project is generating a lot of excitement and support! The response is overwhelming. I am very encouraged that our community recognizes the significance of the mouse model and is engaged in the project!
Quite a few people have requested that I explain what a mouse model is and why we need it.
Basically, a mouse model is a genetically modified mouse created to have a disorder, for example, SDS. There are different ways to introduce SDS into mice, with potentially different results. A mouse could end up being healthy or dead, having SDS symptoms or not, and anywhere in between. You get the idea. We won’t know how the SDS mutation will behave in mice until we try. This is why we need to check the mice thoroughly for SDS after they are genetically modified. And this “whole-body checkup” for the mice is what we are fundraising for (here and on Facebook).
We all recognize the importance of a good mouse model for SDS research. It is so essential that the first thing Dr. Johanna Rommens did after she discovered the main SDS gene in 2003 was to develop a mouse model for SDS. We are very grateful for her pioneering work and contribution to the science of SDS and to our community. Unfortunately, due to the limitations of genetic modification technologies 15 years ago, those mice turned out to be not viable (meaning they were dead before birth) and could not be used for therapy development.
We will use a new genetic modification technique called CRISPR (you might have heard it on the news) to create the mouse model this time. JAX will do the genetic modification (for free!), and Drs. Raaijmakers and Warren will look into:
how the SDS mutation in mice reflects the human biology,
ribosome functions and protein expression levels,
whether the model is showing SDS symptoms (blood problems, pancreatic insufficiency, skeletal deformity, etc.)
If we can create a mouse with the genetic mutation, protein expression, and symptoms of the real SDS that our patients have, we can use the mouse model to potentially develop drugs and/or therapies that correct the genetic mutation, protein expression, and/or possibly all symptoms of SDS! In short, we could cure SDS! This is why we need an SDS mouse model.
Thanks for reading! I know it is a lot and I’d be happy to answer any questions you may have.
From the Founder, Dr. Eszter Hars, Ph.D.
Please donate today and help us fundraise. I'd be happy to help set up your own fundraiser. (For international supporters, we have set up a Facebook fundraiser that doesn't charge credit card fees.)