January 6, 2016 – The Kleine-Levin Syndrome (KLS) Foundation, a patient advocacy group promoting research and supporting families dealing with KLS, today announced that the KLS Foundation has awarded Professor Emmanuel Mignot of Stanford University (Palo Alto, California) a research grant to advance studies investigating the genetics of KLS. This grant will be used to support studies including the further genotyping of individuals with KLS to confirm and extend initial lab findings. Another goal of the grant is a study to sequence the DNA of select KLS families.
Dr. Mignot’s lab has been seeking to identify genes associated with KLS by performing a Genome-Wide Association Study (“GWAS”) using the DNA of individuals with KLS. GWAS studies generally require DNA samples from hundreds of individuals to reliably identify a genetic link with a given condition. The challenge in studying a very rare disease like KLS is the limited number of such samples available. In collaboration with the KLS Foundation and sleep centers around the world, the Stanford University lab has been able to amass over many years the largest collection ever of clinical samples from individuals with KLS.
Dr. Mignot has now obtained very exciting, preliminary research findings, as he reported at a KLS symposium held during the 2015 World Congress on Sleep Medicine conference. In a recent GWAS study, two areas in the genome (“genetic markers”) have been found with a strong association to KLS. Other genetic locations were also identified with weaker associations to KLS. One intriguing genetic location that was identified linked to KLS is a gene that also has been previously reported with a strong genetic association to other neurological disorders. This gene has been further shown to be expressed (actively “turned on”) in neurons. Another genetic region that showed a significant link to KLS in the GWAS study was in a region of DNA with many genes and analysis is underway to identify which, if any, of these genes can be tied to KLS. Two other genetic regions that showed a less strong association with KLS are located near genes that have been implicated in circadian rhythms and muscle tone coordination.
With this latest funding from the KLS Foundation, Dr. Mignot will be able to genotype more KLS individuals in order to bolster the significance of these findings. With positive confirmation of these genetic results, the lab would then begin studies to understand the function of these genes in KLS.
Additional blood samples from individuals appropriately diagnosed with KLS are still being sought by the Stanford University KLS research group.
Emmanuel Mignot, M.D., Ph.D., the principal investigator of these studies, is the Craig Reynolds Professor of Sleep Medicine and Director of the Center for Sleep Sciences & Medicine at Stanford University in Palo Alto, California. He is a world recognized expert in the genetics of sleep disorders and has established the largest collection of KLS clinical samples for research in the world.
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Neal M. Farber, Ph.D.