ASXL-Related Disorders Scientific Conference and Family Meeting

项目摘要 ASXL相关疾病是非常罕见的神经发育和先天畸形综合征 由ASXL基因之一的变异引起（Bohring-Opitz综合征：ASXL 1，Shashi-Pena综合征： ASXL 2，Bainbridge-Ropers综合征：ASXL 3）。ASXL基因调节Hox基因的转录， 通过在组蛋白修饰和染色质中发挥作用， 调控这些综合征的临床变异范围从自闭症和过度生长到深刻的 智力障碍和发育障碍。在大多数这些人中，多个器官系统是 受影响，包括神经系统（非语言、张力减退、癫痫发作、自主神经功能障碍）、精神 功能（行为障碍，焦虑，ADHD，OCD，自闭症谱系），视力（视网膜异常，视神经 神经发育不良、高度近视）和胃肠道（慢性呕吐、喂养不耐受、胆结石），从而 需要高度护理。 该NIH R13补助金用于ASXL相关疾病科学会议和家庭会议， 是一个为期3天的国际研讨会在加州大学洛杉矶分校卢斯金会议中心在洛杉矶，加利福尼亚州从7月29日- 2021年31日。倘因COVID-19疫情而取消，则将于二零二二年七月举行。该活动将包括临床 以及这些疾病专家的科学报告。它还将包括一个实习生海报会议， 研究诊所和家庭活动会议的目的是：1）进一步了解自然 ASXL相关疾病的历史和临床管理; 2）扩大研究网络和共享 来自国际科学界关于ASXL疾病的数据; 3）为了增加串扰， 科学家、临床医生和家庭之间的合作，努力建立我们对以下问题的基本理解： ASXL基因的致病性; 4）为了进一步临床转化ASXL病症， 收集生物样本和自然历史数据; 5）建立家庭网络，为 家庭，并允许改善所有ASXL家庭的整体护理。 本次研讨会的重点是对健康和福祉有重大影响的遗传条件， 整个家庭单位。虽然这些疾病是先天性的，主要影响儿童，但越来越多的儿童， 个体存活到成年期。支持儿童的健康和发展， 寿命，同时认识到整个家庭的健康的作用，是一个关键的使命的尤尼斯肯尼迪 施莱佛国家儿童健康和人类发展研究所（NICHD）。

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. This NIH R13 grant is for the ASXL-Related Disorders Scientific Conference and Family Meeting which will be a 3-day international symposium at the UCLA Luskin Conference Center in Los Angeles, CA from July 29- 31, 2021. If canceled due to the COVID-19 pandemic, it will be held in July 2022. The event will include clinical and scientific presentations from experts on these disorders. It will also involve a trainee poster session, research clinic, 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 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).