The Center for Cerebellar Malformations
Current JS Research
The Gleeson laboratory is conducting a study of find out more about
the inherited causes of JS and related cerebellar disorders in children. The main goal of the current study is
to identify the genes involved in JS.
We recently identified the second gene involved in JS, CEP290. We identified the first gene involved
in JS, called AHI1 or Jouberin, in 2004.
These genes are involved in many but not all families with JS. Now that these genes have been
identified, scientists will determine the roll it and others play in the
brain. We hope that this information
will lead to better treatments as well as helping prevent future cases. The lab is working with
researchers at other institutions about the world in this effort. If you would like to find out more
about this study, including details about participation, visit our How can I get involved?
Link.