INSTITUTO KENNEDY KRIEGER
Dra. Jacqueline Harris
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Oportunidades de investigación actuales:
El paciente debe estar genéticamente diagnosticado para participar en estos tres estudios.
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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 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 (firstname.lastname@example.org) or Dr. Harris (email@example.com).
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 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 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.
Jennifer Johnson, MA
Jennifer Johnson graduated from Washington Adventist University with a BS in counseling Psychology and then got an MA in Professional Counseling Psychology. She joined Kennedy Krieger Institute in 2016 and began working with Kabuki syndrome the following year. She is the research coordinator for all the clinical research studies listed here.
Allison Kalinousky, BS
Allison Kalinousky has a BS in Chemical Engineering from University at Buffalo and is now pursuing a PhD in Human Genetics at Johns Hopkins University. Allison's doctoral work is focused on Kabuki syndrome and developing KS-specific biomarkers and outcome measures.
Alyssa Blesson, MGC, CGC
Alyssa Blesson is a genetic counselor at the Kennedy Krieger Institute (KKI) in Baltimore, Maryland. Alyssa is passionate about providing genetic counseling for patients and families with neurogenetic conditions and neurodevelopmental disorders and has seen many patients with KS and has expertise in genetic counseling issues specific to this disorder. She received her Master's degree from University of Maryland School of Medicine. Alyssa is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling.
Jacquelyn Britton, MGC, CGC
Jacquelyn Britton is a genetic counselor at Johns Hopkins University in Baltimore, Maryland. She obtained her Bachelor of Science in Biology with concentration in Cellular and Molecular Biology from Loyola College in Maryland in 2007, followed by a Master's in Genetic Counseling from University of Maryland School of Medicine in 2009. At Johns Hopkins, she is the primary genetic counselor for the Epigenetics and Chromatin clinic. Jackie has worked with many patients and families with Kabuki syndrome, providing information and support regarding genetic testing and results, features of the condition, and recurrence risks and reproductive testing options. She enjoys seeing patients come back to clinic over the years and hopes to help families continually adapt to new and changing circumstances.