两岁的伊迪·穆尔里，澳大利亚首位被诊断出罕见的JELANS疾病，在父母筹集30万美元用于治疗后引发了全球科研。 Two-year-old Edie Mulry, first in Australia diagnosed with rare JELANS disorder, sparks global research effort after her parents raise $300K for treatment.

来自新南威尔士的两岁的Edie Mully是澳大利亚第一个被诊断为JELANS的儿童,JELANS是CRELD1突变造成的罕见遗传疾病,导致每天多达100例的收缴量和严重的发育迟缓。 Two-year-old Edie Mulry from NSW is the first child in Australia diagnosed with JELANS, a rare genetic disorder caused by a CRELD1 mutation leading to up to 100 seizures daily and severe developmental delays. 经过多年的医学解职后,先进的遗传测试证实了在COVID-19住院期间发生严重查封事件后诊断的结果。 After years of medical dismissals, advanced genetic testing confirmed the diagnosis following a severe seizure episode during a COVID-19 hospitalization. 由于全世界只有大约30个已知病例,而且没有治疗或研究资金,她的父母正在通过社区活动筹集30万美元,以支持英国在伯明翰大学的研究。 With only about 30 known cases worldwide and no treatments or research funding, her parents are raising $300,000 through community events to support UK-based research at the University of Birmingham. 试验目的是开发实验室培养的Edie的突变细胞模型, The effort aims to develop lab-grown cell models of Edie’s mutation to test potential drug therapies, offering hope for her and other children with the condition.