3岁的Nathaniel Clayton通过NHS基因组测试被诊断为罕见的KIF1A紊乱,有利于早期护理和计划生育。 Three-year-old Nathaniel Clayton was diagnosed with rare KIF1A disorder via NHS genomic testing, enabling earlier care and family planning.

三岁的Nathaniel Clayton接受了KIF1A的诊断,KIF1A是一种罕见的神经疾病,影响全世界约500名儿童,在伦敦大奥尔蒙街医院进行了整个基因组测序。 Three-year-old Nathaniel Clayton received a diagnosis of KIF1A, a rare neurological disorder affecting about 500 children worldwide, after whole genome sequencing at Great Ormond Street Hospital in London. 他的视力问题,从六个月开始,导致在确定遗传原因之前进行多年医学评估。 His vision problems, starting at six months, led to years of medical evaluations before the genetic cause was identified. 国家卫生局基因组医学服务的进展使得诊断成为可能,这使他的家人更加清楚,能够获得专门护理和支助,并能够及早进行规划。 The diagnosis, made possible by advances in the NHS’s Genomic Medicine Service, brought clarity to his family, enabled access to specialized care and support, and allowed for early planning. 一项新的研究发现,儿童现在被诊断出的平均年龄比前十万个基因组项目下的儿童早六至二岁,这得益于早期研究推动的改进。 A new study found children are now diagnosed at an average age of six—two years earlier than under the previous 100,000 Genomes Project—thanks to improvements driven by earlier research. 虽然没有治疗方法,但早期诊断通过有针对性的干预和家庭准备,支持取得更好的结果。 Though there is no cure, early diagnosis supports better outcomes through targeted interventions and family preparedness. Nathaniel现在上视力障碍儿童学校,成为大哥哥,其姐姐被证实没有这个病症。 Nathaniel now attends a school for visually impaired children and has become a big brother, with his sister confirmed not to have the condition.