Enormous resources have been invested in the analysis of neuropsychiatric disorders using powerful genomics techniques, including genome-wide association studies (GWAS), whole-exome sequencing (WES), and whole-genome sequencing, to search for nuclear DNA (nDNA) gene variants associated with these disorders. Yet, no coherent pathophysiological etiology for psychiatric disorders has emerged. For example, after analysis of thousands of autism cases by GWAS and WES, numerous copy number variants and loss-of-function mutations have been identified, but no single variant accounts for a significant proportion of cases. Moreover, the genes that have been found to harbor loss-of-function mutations in patients with autism overlap with those associated with congenital heart disease and metabolic disorders.¹ What do “brain” diseases have to do with congenital heart disease and metabolic disorders?

使用强大的基因组学技术（包括全基因组关联研究（GWAS），全外显子测序（WES）和全基因组测序）来寻找核DNA（nDNA）基因变异，已经投入了大量资源来分析神经精神疾病与这些疾病有关。然而，尚未出现用于精神疾病的连贯的病理生理病因。例如，在通过GWAS和WES对成千上万的自闭症病例进行分析后，已鉴定出许多拷贝数变异和功能丧失突变，但没有单一变异占病例的很大比例。此外，已发现在自闭症患者中具有功能丧失突变的基因与与先天性心脏病和代谢性疾病相关的基因重叠。^1个 “脑”疾病与先天性心脏病和代谢紊乱有什么关系？