We identify bi-allelic NDUFA5 variants in four individuals from three families with mitochondrial complex I deficiency. Genomic, transcriptomic, proteomic, and biochemical studies across patient tissu...

Researchers have developed a blood test capable of rapidly diagnosing rare genetic diseases in babies and children, eliminating costly and invasive procedures and giving earlier access to treatment.

Families can wait years for a diagnosis of a rare genetic disorder, but a new test can provide answers in days for a better understanding of the condition and potentially earlier treatment, finds new...