RESEARCH PARTICIPATION OPPORTUNITIES
Currently, there are three key institutions in the US that offer both clinical guidance and research opportunities to Kabuki Syndrome patients and families: Kennedy Krieger/Johns Hopkins, Cincinnati Children's Hospital, and the Roya Kabuki Program at Boston Children's Hospital. The Kabuki Syndrome Foundation is activating even more collaboration and support for these projects and others globally. Patients and caregivers can participate in many of these studies from home. The institutions listed below are actively seeking KS patients to participate in research.
Patients' needs and involvement directly influence research project direction and success. KSF supports researchers who seek to improve the quality of life for individuals with KS. To improve the quality of life for KS patients, patients and their families must support researchers.
Without research, you wouldn't be here. You wouldn't have a diagnosis. To learn more about the role patients play in Kabuki syndrome research, check out the video clip by Dr. Brittany Simpson (taken from the 2021 KSF Research Conference).
We know your time is valuable, but your participation is critical.
Click on the links below to learn how you can drive Kabuki syndrome research.
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 currently conducting several research studies and is seeking participants. Please see the individual study details below.
Dr. Olaf Bodamer directs the Roya Kabuki Syndrome Program at Boston Children's Hospital. This multidisciplinary and patient-centered initiative is focused on finding treatments for children and adults with KS. The goals of current projects include defining neurobehavioral outcome measures, identifying changes in eye health, and simplifying research participation using electronic consent.
Dr. Brittany Simpson, MD, is an assistant professor at Cincinnati Children’s Hospital Medical Center (CCHMC). She co-founded and currently directs the Epigenetic Syndromes Clinic at CCHMC, which aims to improve patient care and follow-up through interdisciplinary specialization. The clinic is part of a larger program conducting research studies designed to better understand the natural history of Kabuki syndrome as well as to identify targets for outcome and treatment research.