Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Publication: BMJ
Katherine R Schon, Rita Horvath, Wei Wei, Claudia Calabrese, Arianna Tucci, Kristina Ibañez,
Thiloka Ratnaike, Robert D S Pitceathly, Enrico Bugiardini, Rosaline Quinlivan, Michael G Hanna, Emma Clement, Emma Ashton, John A Sayer, Paul Brennan, Dragana Josifova, Louise Izatt, Carl Fratter, consultant Victoria Nesbitt, Timothy Barrett, Dominic J McMullen, Audrey Smith, Charulata Deshpande, Sarah F Smithson, Richard Festenstein, Natalie Canham, Mark Caulfield, Henry Houlden, Shamima Rahman, Patrick F Chinnery
4 November 2021
Summary
Mitochondrial disorders affect around 1 in 4,300 people and cause progressive, incurable diseases. They are amongst the most common inherited diseases but are difficult for clinicians to diagnose, standard tests can fail to diagnose some patients. A new study has been able to find using WGS can help provide a diagnosis for up to 31% more patients with a rare genetic disorder which will ultimately help them begin the right treatment pathway.
