A young girl with Progressive Dystonia, a very rare disease in children that causes painful seizing of the muscles, has uttered her first word in four years, “Mama”, following treatment.
The patient, Mary-Ann Cleary, had progressed so severely that she was unable to move or speak, eventually resulting in her being admitted to the Intensive Care Unit.
The Genomics Medicine Ireland (GMI), together with the University College Dublin Academic Centre on Rare Diseases (ACoRD), worked with Prof. Mary King, Consultant Paediatric Neurologist and Research Fellow Dr. Eva Forman at Temple Street Children’s Hospital to follow genomic sequencing that identified a mutation in gene KMT2B.
This was shown to respond to a treatment called Deep Brain Stimulation (DBS), a procedure that is not typically performed on young children. In September 2017 Mary-Ann underwent DBS, and in November she spoke for the first time in four years. Today she is able to move around, speak, laugh, and play.
This case offers insight into the potential in genomics for precision medical diagnostics and treatments. Previously UK, where the family now lives, were unable to identify a successful treatment for the patient, despite a series of tests over a number of years which all ultimately proved inconclusive.
However, after taking genomic analysis of the patient’s blood sample by GMI, it took only weeks to process, which was a fraction of the time and cost relative to what had been undertaken and which resulted in a far more efficient and effective resolution.
Seán Ennis, Chief Scientific Officer and co-founder of Genomics Medicine Ireland and Director of UCD ACoRD, commented: “Genomic research studies usually take many years to yield significant actionable results, so to achieve such an important, tangible outcome so quickly is amazing, especially given the critical condition and time-sensitive nature of the patient. This example has really shown 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 undertaking research into Multiple Sclerosis, Inflammatory Bowel Disease, and Brain Tumours in conjunction with hospitals across Ireland and the company also recently announced they will be examining Alzheimer’s disease.