Saturday, May 4, 2024
5/4/2024
Project Summary The ASXL-Related Disorders are ultra-rare neurodevelopmental and congenital malformation syndromes caused by variants in one of the ASXL genes (Bohring-Opitz Syndrome: ASXL1, Shashi-Pena Syndrome: ASXL2, Bainbridge-Ropers Syndrome: ASXL3). The ASXL genes regulate transcription of the Hox genes and are considered “readers” of the epigenetic code by playing a role in histone modification and chromatin regulation. The clinical variability of these syndromes ranges from autism and overgrowth to profound intellectual disabilities and growth failure. In the majority of these individuals, multiple organ systems are affected, including the neurologic system (non-verbal, hypotonia, seizures, dysautonomia), psychiatric functioning (behavioral disorders, anxiety, ADHD, OCD, autism spectrum), vision (retinal anomalies, optic nerve dysplasia, high myopia), and gastrointestinal (chronic vomiting, feeding intolerance, gallstones), thereby requiring a high level of care. There is also an increased risk for Wilms tumor and hepatoblastoma in ASXL1. This NIH R13 grant is for the ASXL-Related Disorders Scientific Conference and Family Meeting, which will be a 4-day international symposium at the Kennedy Krieger Institute in Baltimore, MD from July 18- 21, 2024. The event will include clinical and scientific presentations from experts on these disorders. It will also involve a trainee poster session, research room to provide opportunities for participation in clinical research studies, and family events. The goals of the meeting are: 1) To further knowledge about the natural history and clinical management of the ASXL-Related Disorders; 2) To expand the research network and share data from the international scientific community on the ASXL disorders; 3) To increase cross-talk and collaboration between scientists, clinicians, and families in an effort to build on our basic understanding about the pathogenicity of the ASXL genes; 4) To further clinical translational efforts for the ASXL conditions by developing an infrastructure for clinical trials through developing biomarkers, collecting biologic samples, and natural history data; 5) To foster a family network that provides a safety net for families and allows for the improved holistic care for all ASXL families. This symposium focuses on genetic conditions that have a significant impact on the health and well-being of the entire family unit. While these conditions are congenital, primarily impacting children, a growing number of individuals are surviving into adulthood. Supporting the health and development of children throughout their lifespan while recognizing the role of the entire family’s health, is a critical mission of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
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