A young Irish girl has just spoken for the first time in four years thanks to medical teams in Dublin.
Mary-Ann Cleary lives with a condition called Progressive Dystonia that causes painful seizing of the muscles, and became so severe that she was unable to move or speak.
Teams from Genomics Medicine Ireland, UCD's Academic Centre on Rare Diseases and Temple Street Children's Hospital have worked together to help the 8-year-old speak again.
They identified a gene mutation which responded to a treatment not traditionally performed on young children.
In September 2017 Mary-Ann underwent Deep Brain Stimulation, and in November she spoke for the first time in four years.
Her first word was "Mama".
Genomics involves the study of a person's entire set of DNA, background and lifestyle factors.
It provides a more complete picture for genetic research, and the findings may be used to better diagnose, predict progression and tailor treatment based on a person's genetic makeup.
Seán Ennis, Chief Scientific Officer and co-founder of Genomics Medicine Ireland said Mary-Ann's case really showed "the true potential of genomics, which is accurate, targeted, quick and affordable diagnostics and treatment; it's a real win-win for all involved".
Genomics Medicine Ireland is currently researching Multiple Sclerosis, Inflammatory Bowel Disease and Brain Tumours, and also recently announced it will be examining Alzheimer's disease.
