JS-LIFE Research Challenge

One more week until we write the protocol!

Ann Chang's picture

Thank you so much for your participation in Mosaic! It is inspiring to see great discussions among caregivers, researchers, and the Joubert Syndrome community. We see common themes emerging such as: how to obtain an earlier diagnosis, what are the common ways children are diagnosed, what are common medical complications, what is the impact of Joubert Syndrome on daily activities, and many more!

  • Continue sharing your research ideas until May 31.
  • Next up:  Join us in June to post comments on the written research plan.

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Melissa Asman's picture

This may be out of the purview of this research but I heard something interesting in a talk at the JS human genetics Conference. 

A researcher was talking about moving a ciliary mutation from one mouse strain to another and the penetrance going from mild JS like symptoms to Embryonic lethal  in only a few generations. I haven't seen a paper on this yet although I may have missed it. Since common mouse strains have their mutations mapped it would be of great interest to see which background provided the best 'resistance' to this single ciliary mutation and start picking apart why.