Deciphering the pathogenetics of rare diseases by multi-omic approaches: disorders of mitochondrial energy generation as an exemplar

已知的遗传性罕见疾病有7000多种。尽管个别情况很少见，但这些疾病总共至少影响到每20人中的1人，估计约占儿童医院入院人数的四分之一。在过去，诊断通常是不可能的，但新的基因组技术现在可以对大约一半的此类儿童进行诊断。我们寻求改进这些方法，以便近100%患有遗传性能量生成障碍的儿童能够得到诊断。

More than 7000 inherited rare diseases are known. Although individually rare, these disorders collectively affect at least 1 in 20 people and are estimated to account for about a quarter of admissions to children’s hospitals. Diagnosis was often impossible in the past but new genomic technologies now allow diagnosis of perhaps half of all such children. We seek to improve these approaches so that nearly 100% of children with inherited disorders of energy generation can be diagnosed.