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INSTITUTO KENNEDY KRIEGER
Dra. Jacqueline Harris
Esta página esta en construcción. Vuelva a consultar con frecuencia para obtener actualizaciones y oportunidades de investigación.
Oportunidades de investigación actuales:
Un estudio clínico del cerebro y la cognición en el síndrome de Kabuki
Un ensayo piloto de una terapia dietética para el síndrome de Kabuki
Comprensión del sueño , el comportamiento y la calidad de vida en el síndrome de Kabuki
El paciente debe estar genéticamente diagnosticado para participar en estos tres estudios.
Haga clic en cada enlace para obtener más detalles.
¿Interesado en pruebas genéticas asequibles? Hacer clic AQUÍ .
Kabuki Syndrome Programs at Kennedy Krieger Institute and Johns Hopkins Medical Institution
Clinical Research Program
Overview: The clinical research program at KKI/JHH conducts studies with participation from individuals with Kabuki syndrome and their families. These studies are designed to prepare for a clinical trial in Kabuki syndrome with a goal of improving the cognitive and behavioral challenges that those with KS face.
Our Team
Our core team includes Dr. Jacqueline Harris, Jennifer Johnson and Allison Kalinousky (see bios below). However the Kabuki syndrome research program has access to the wealth of human resources at KKI/JHH including experts in clinical trials in rare diseases, electrophysiology, imaging, cognitive and behavioral measures, bioinformatics, movement and more.
Current Research Projects
There are currently three major research projects ongoing in KS. All projects are designed to move us toward a major clinical therapeutic trial targeting cognition and behavior. Please see the links at the top of this page for more information, or contact our team: Jennifer Johnson (johnsonjen@kennedykrieger.org) or Dr. Harris (harrisjac@kennedykrieger.org).
Clinical Care for Patients with Kabuki Syndrome
Kabuki Syndrome Services at Kennedy Krieger Institute
Full service Neurodevelopmental/Neurogenetics clinic accepting new patients for in-person or telehealth appointments. For more information click HERE.
Our Team
Our core team present at every visit includes Dr. Jacqueline Harris, Alyssa Blesson and Jennifer Johnson (see bios below). Additionally the clinic has access to the wealth of human resources at KKI/JHH including Neuropsychology, Behavioral Psychology, Feeding, OT, PT, SLP, and every medical subspecialty - pediatric and adult - all with extensive experience with patients with KS.
Epigenetics and Chromatin Clinic at Johns Hopkins
Our Team
Our core team present at every visit includes Dr. Jill Fahrner, Dr. Jacqueline Harris and Jacqelyn Britton (see bios below). Additionally the clinic has access to the wealth of human resources at KKI/JHH including Neuropsychology, Behavioral Psychology, Feeding, OT, PT, SLP, and every medical subspecialty - pediatric and adult - all with extensive experience with patients with KS.
Jacqueline Harris, MD, MS
Dr. Harris is the Director of the Kabuki Syndrome Services at Kennedy Krieger Institute. She is the Principal Investigator on all the clinical research studies listed here. Dr. Harris is Assistant Professor of Neurology, Pediatrics, and Genetics at Kennedy Krieger Institute and Johns Hopkins School of Medicine. She is interested in genetic and epigenetic causes of neurodevelopmental disorders - particularly intellectual disability - and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trials and to help localize deficits. Most of her research is currently centered around Kabuki syndrome.
Jill Fahrner, MD, PhD
Dr. Fahrner is an Assistant Professor of Genetics and Pediatrics and the Director of the multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins University School of Medicine. She is a physician-scientist with a long-standing interest in epigenetics and epigenetic mechanisms of disease, and her focus is on providing optimal medical care for individuals with Mendelian disorders of the epigenetic machinery. She has particular expertise in Kabuki syndrome, including Kabuki syndrome 1 and Kabuki syndrome 2. Her laboratory research is focused on understanding mechanisms of and developing therapies for poor growth in Kabuki syndrome.