Kabuki syndrome at St. Jude

St. Jude Children’s Research Hospital is working to deepen the understanding of rare, catastrophic genetic neurological disorders in children, with the aim of transforming the treatment landscape for these disorders. Launched in 2018, the Pediatric Translational Neuroscience Initiative (PTNI) brings the mission of St. Jude to children living with catastrophic pediatric neurological disorders, leveraging the scientific strength and expertise in experimental therapeutics of St. Jude to rise to the challenge of altering the landscape of pediatric neurological disease.

PTNI brings together scientists, leading medical providers, patient advocates, and others to address the unmet needs of children with these disorders. The initiative serves as a formalized mechanism for translational neuroscience that extends from fundamental bench science to experimental neurotherapeutics.

The Center for Experimental Neurotherapeutics (CENT) was established at St. Jude as part of the Pediatric Translational Neuroscience Initiative (PTNI) to focus on these neurological disorders.

Within PTNI, the Center for Experimental Neurotherapeutics (CENT) allows St. Jude to move the most promising experimental therapies from the lab into clinical tests as soon as possible. The goal is to speed development of effective therapies by advancing innovative clinical trials.

Children with certain genetic neurological disorders at St. Jude visit the CENT Clinic for care. Starting in 2025, children with Kabuki syndrome and certain other genetic disorders who are accepted at St. Jude will take part in clinical research or clinical trials at the CENT Chromatin Clinic, directed by Dr. Brittany Simpson, MD, Clinical Investigator in Neurogenetics and Consulting Physician, Center for Experimental Neurotherapeutics (CENT). The aim of these studies is to help scientists learn more about the disorders and to develop potential treatments.  

Dr. Brittany Simpson, MD, is a Clinical Investigator in Neurogenetics and a Consulting Physician for St. Jude Children’s Research Hospital’s Center for Experimental Neurotherapeutics (CENT), and an Assistant Professor at University of Tennessee Health Science Center and Le Bonheur Children’s Hospital. At St. Jude, Dr. Simpson directs the CENT Chromatin Clinic, which will enroll children with chromatin disorders such as Kabuki syndrome. Through her work, she seeks to expand knowledge and understanding of these complex disorders to advance clinical trial development and improve patient outcomes.

Dr. Simpson graduated from the University of Mississippi Medical Center in 2016 and completed her combined residency in Pediatrics and Medical Genetics at Cincinnati Children’s Hospital Medical Center in 2020, where she served as chief resident from 2019 to 2020. From 2020 to 2024, she was a faculty member at Cincinnati Children’s Hospital Medical Center, where she served as director and co-founder of the Epigenetic Syndromes Clinic and natural history study, the Principal Investigator (PI) of the CHARGE Center patient registry, and clinic co-director and lead physician of the Neurofibromatosis Program and PI of the Neurofibromatosis and related disorder natural history study. 

Dr. Simpson’s work focuses on the care of patients with rare genetic conditions, with a focus on congenital chromatin conditions such as Kabuki syndrome, Rubinstein-Taybi syndrome, Menke-Hennekam syndrome, and CHARGE syndrome. In addition to her work with the CENT Chromatin Clinic at St. Jude, she also participates in patient care through general genetics outpatient and consultation services at Le Bonheur Children’s Hospital and is involved in trainee education.

Dr. Simpson is a Medical and Scientific Advisory Board Member of the Kabuki Syndrome Research Foundation, a Professional Advisory Board Member of the CHARGE Syndrome Foundation, and a Chromatin Clinic Consortium Member.