Dr. Jacqueline Harris, pediatric neurologist and director of the Kennedy Krieger Epigenetics Clinic, has been awarded a $125,000 grant from the Kabuki Syndrome Foundation (KSF) for her research efforts into the cause and treatment of Kabuki Syndrome. Kabuki, a rare neurological disorder.
The two-year grant supports Harris’ work to develop and test a neurocognitive and neurobehavioral assessment tool that will be a critical component in setting up effective clinical trials for Kabuki syndrome therapies.
Kabuki syndrome is a rare genetic disorder with a wide range of symptoms, including intellectual disabilities, immune deficiencies, heart 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 exhibit visual-spatial reasoning and memory deficits, in addition to severe anxiety. Early research efforts indicate that abnormalities in the brain can lead to deficits in visuospatial function. However, more research is needed to understand why people with Kabuki syndrome exhibit severe anxiety.
There is currently no syndrome-specific treatment or cure for Kabuki syndrome.
Harris said the grant also allows her team to hire more staff to focus on Kabuki syndrome research and to lead inter-institutional collaborations.
The Kabuki Syndrome Foundation was established in 2017 and is a US-based nonprofit organization dedicated to accelerating promising research efforts to treat, prevent, or cure Kabuki Syndrome.