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

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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.