Transforming the Diagnosis and Management of Severe Neurocognitive Disorders through Genomics

神经认知障碍(NCD)是我们社会中最常见的遗传疾病之一，它导致需要对许多受影响的人进行持续的永久护理。直到最近，只有30%的非传染性疾病患者可以被诊断出来，但随着可以同时检测所有基因的基因组测试的出现，这种情况已经改变了。基因组学在CRE中的应用将导致新的NCD基因被识别，并将这些信息转化为临床环境。

Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.