KLS Foundation funds new study of potential biomarkers of KLS led by Dr.  Emmanuel Mignot at Stanford University

The cause of KLS is unknown but recent results have suggested a genetic marker.   The KLS Foundation has recently funded Dr. Emmanuel Mignot’s lab at Stanford University to try and identify which of the 5 genes located close to the marker maybe related to KLS.   Dr. Mignot stated, “The reason for our findings to this point has been persistence and, thanks to the KLS foundation, funding and the ability to recruit over 600 patients to participate in the initial study. This was also due to the fact genetic technologies have improved vastly in the last 10 years so that millions of genetic variants can now be tested at once.  Because we feel that the most likely chance we have to detect differences is in the Cerebral Spinal Fluid (CSF) rather than blood, and by comparing cases in and out of episodes in both CSF and blood, we are planning to study proteins in 66 KLS subject samples.”

We look forward to the results of the new study and hope that it will be able to detect specific protein alterations in KLS.  These may have diagnostic value or could be useful to better understand the cause of KLS, even possibly suggesting new treatments.

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