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The value of collaboration in improving knowledge on rare diseases.

机译:合作对提高对罕见病知识的价值。

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The paper by Mah et al published in this edition of the Canadian Journal of the Neurological Sciences is an excellent illustration of how collaborative efforts across a clinical network are crucial in understanding rare diseases and improving standards of diagnosis and ultimately care. The paper presents the findings of the Canadian Paediatric Neurology Group which "was founded in 2005 as a collaborative effort to promote research and to enhance the clinical care of children with neuromuscular disease". This multidisciplinary group has representation across Canada. The work described here specifically addressed the issue of diagnosis in Duchenne muscular dystrophy over a ten-year-period during which diagnostic standards have changed significantly due to advances in molecular genetic technologies.
机译:Mah等人在此版《加拿大神经科学杂志》上发表的论文很好地说明了整个临床网络的协作对了解稀有疾病,提高诊断水平和最终护理水平至关重要。本文介绍了加拿大儿科神经病学小组的研究结果,该小组“成立于2005年,是为促进研究和增强神经肌肉疾病患儿的临床护理而做出的共同努力”。这个多学科小组在加拿大各地都有代表。此处描述的工作专门解决了长达十年的杜氏肌营养不良症的诊断问题,在此期间,由于分子遗传技术的发展,诊断标准已发生了显着变化。

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