An eight-year-old girl suffering from a rare genetic disorder called dystonia has experienced a dramatic improvement as a result of cutting-edge genomics research carried out in Dublin.
Mary-Ann Cleary, who has Irish heritage and lives in England, lived with dystonia for a number of years before it degenerated into an acute, life-threatening variation called status dystonicus in April 2017.
Doctors were unable to identify a successful treatment, despite a range of tests that proved inconclusive. Mary-Ann was left completely mute and was eventually placed on a ventilator, with a poor prognosis.
Her doctors in the UK contacted Professor Mary King, Consultant Neurologist at Temple Street Children's University Hospital, who decided to turn to genomic analysis.
Genomics is a field of science that studies a person's genome, which includes DNA plus other genetic factors, as well as information on a patient’s background and lifestyle.
Analysis of Mary-Ann's blood was carried out by Genomics Medicine Ireland and research fellow Dr Eva Forman spotted a mutation in a gene called KMT2B.
This was significant as the mutation has been shown to respond to a treatment called deep brain stimulation (DBS), a procedure not traditionally performed on young children. It involves inserting an implant into the brain to stimulate certain areas.
Because of this discovery, UK medics treated Mary-Ann using the DBS procedure in September 2017.
Within weeks, she was able to come off the life-support machine with dramatic improvements. The eight-year-old was discharged from hospital two months later and is now at home.
Mary-Ann has been able to speak for the first time in four years. Her parents say her first word was "Mama", and that she "looks like a brand new child".
Genomics Medicine Ireland (GMI) claims that the case, which is being made public today, shows the use of genomic analysis can provide rapid and accurate diagnosis, supported by empirical evidence.
Prof King says that it is hoped the science, still at an early stage of development, can be increasingly used to help those with neurological illnesses.
GMI says that Ireland is "particularly well-suited to genomic research due to its unique demographic: a large population of people with shared genetic make-up which translates scientifically to more significant discoveries".