On March 27, 2018, Irish life sciences company Genomics Medicine Ireland (GMI) announced that pioneering genetic analysis has led to the successful diagnosis and treatment of a young girl with progressive dystonia, a very rare disease in children. The condition causes painful seizing of the muscles, which in the case of the patient, Mary-Ann Cleary, progressed so severely that she was unable to move or speak, eventually resulting in her being admitted to the Intensive Care Unit. GMI, in conjunction with the University College Dublin Academic Centre on Rare Diseases (ACoRD), worked with Professor Mary King, Consultant Paediatric Neurologist, and Research Fellow Dr. Eva Forman at Temple Street Children’s Hospital, and, following genomic sequencing, they identified a mutation in gene KMT2B, a histone demethylase gene. This was shown to respond to a treatment called deep brain stimulation (DBS), a procedure not traditionally performed on young children. In September 2017, Mary-Ann underwent DBS, and in November she spoke for the first time in four years. Her first word was “Mama.” This case highlights the enormous potential in genomics for precision medical diagnostics and treatments. Doctors in the UK, where the family now lives, were unable to identify a successful treatment for the patient over the course of her condition, despite a battery of tests over a number of years, which all eventually proved inconclusive. The genomic analysis of the patient’s blood sample by GMI, however, took only weeks to process, a fraction of the time and cost relative to what was undertaken previously.
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