Please ensure Javascript is enabled for purposes of website accessibility

Kabuki Syndrome Foundation awards $125K to fund research at Kennedy Krieger Institute

Dr. Jacqueline Harris, a pediatric neurologist and director of Kennedy Krieger’s Epigenetics Clinic, received a $125,000 grant from the Kabuki Syndrome Foundation (KSF) for her research efforts into the cause and treatment of Kabuki syndrome, a rare neurological disorder. 

The two-year grant supports Harris’ work to develop and test a neurocognitive and neurobehavioral assessment tool that will be an essential part of setting up effective clinical trials for Kabuki syndrome therapies.

Kabuki syndrome is a rare genetic disorder with a broad spectrum of symptoms including intellectual disabilities, immune deficiencies, cardiac and kidney abnormalities and growth and bone disorders. The incidence of Kabuki syndrome is estimated to be at least one in 32,000 births in the general population.

Patients with Kabuki syndrome also often have deficits in visuospatial reasoning and memory, in addition to severe anxiety. Early research efforts indicate that abnormalities in the brain may cause deficits to visuospatial function. However, more research is needed to understand why individuals with Kabuki syndrome exhibit severe anxiety.  

Currently there are no syndrome-specific treatments or a cure for Kabuki syndrome. 

Harris said the grant also allows her team to hire more staff members to focus on Kabuki syndrome research and to lead cross-institutional collaborations.

The Kabuki Syndrome Foundation was established in 2017 and is a U.S.-based nonprofit organization dedicated to accelerating research efforts that show promise to treat, prevent or cure Kabuki syndrome.