BC 儿童医院的研究人员发现一种罕见的遗传病,与过度活跃的 MARK4 基因有关,导致儿童发育迟缓和癫痫发作。 Researchers at BC Children's Hospital discover a rare genetic disease linked to an overactive MARK4 gene causing developmental delays and seizures in children.
不列颠哥伦比亚省儿童医院的研究人员发现了一种罕见的遗传性疾病,会导致儿童发育迟缓和癫痫发作。 Researchers at BC Children's Hospital have discovered a rare genetic disease causing developmental delays and seizures in children. 这种疾病与过度活跃的 MARK4 基因有关,会影响年轻大脑的健康发育,并且是影响不列颠哥伦比亚省出生的每 25 名儿童中就有 1 名的数千种罕见疾病之一。 The disease, linked to an overactive MARK4 gene, affects the healthy development of young brains and is one of the thousands of rare diseases impacting one in 25 children born in British Columbia. 该医院的精准健康计划旨在通过使用机器学习和基因研究等先进技术,将罕见疾病诊断的成功率从目前的50%提高到75%,提高25%。 The hospital's Precision Health Initiative aims to increase the success rate of rare disease diagnoses by 25%, from the current 50% to 75%, by using advanced technologies like machine learning and genetic research.