Our mission is to drive research efforts that show promise to treat, prevent or cure Kabuki Syndrome through fundraising, knowledge-sharing and collaborating with researchers around the world.
WHAT IS KABUKI SYNDROME?
Kabuki Syndrome is a rare, multi-system disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, and skeletal abnormalities. A wide variety of additional symptoms affecting multiple organ systems may occur, and vary from one person to another.
To date, researchers have identified a mutation in one of two genes that leads to Kabuki Syndrome. Males and females are affected equally and the syndrome is found in all ethnic groups. The incidence of Kabuki Syndrome has been estimated to be at least one in 32,000 births in the general population. With increased availability of gene testing, it is expected that two or three times as many cases may be properly diagnosed. There is currently no cure for Kabuki Syndrome.
Source: National Organization for Rare Disorders
Virtual Research Study: Understanding Sleep, Behavior,
And Quality of Life in Kabuki Syndrome
Other genetic disorders have an increased rate of issues concerning sleep, anxiety, and quality of life compared to the general population. Many of these factors have not been fully explored in individuals with KS. Studying day-to-day behaviors and factors that shape the life of someone with KS is critical in completely understanding the condition. Further developments in these areas will help guide future trials and treatments.
Dr. Jacqueline Harris, MD, Kennedy Krieger Institute/Johns Hopkins Medical Institution, specializes in patients with epigenetic disorders with neurologic and/or cognitive manifestations in Kabuki Syndrome. Dr. Harris is conducting a virtual study on sleep, behavior, and quality of life. Please see the flyer below to participate. (This study will close in July 2021)
KS Virtual Study Flyer: