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An MRC-funded study established a unique set of findings about gigantism in Northern Ireland which brought together endocrinology, genetic disease, medical history, local folklore and legends and epidemiology.
She recalled that there is an 18th century patient with gigantism in the Royal College of Surgeons Hunterian Museum, called the “Irish giant”.
The discovery started at Dr Korbonitis’ Endocrine Outpatient clinic at Bart’s Hospital in 2008 when a young man presented with early-onset acromegaly and a family history of gigantism. His family is from Northern Ireland. Dr Korbonitis’ tam identified a mutation in a gene called AIP, described 18 months earlier to cause familial acromegaly and gigantism. She recalled that there is an 18th century patient with gigantism in the Royal College of Surgeons Hunterian Museum, called the “Irish giant”. She asked formal permission to take a DNA sample from the skeleton, and while permission was granted and DNA extraction was organised she identified 3 more families with the same mutation all with Irish ancestry. She identified the same DNA motif surrounding the mutation in all four living families as well as in the DNA of the 18th century giant, proving the common origin. The 18th century patient, who was born just three miles from the home town of the first patient, is depicted in a National Portrait Gallery etching with two twin giants who were said to be his cousins, further supporting the genetic origin of his disease. Dr Korbinitis established that the gene has been present in the area probably for 1500 years and this may correspond to the fact that Ireland’s folklore has long been preoccupied with giants and Ulster’s numerous landmarks mentions giants. The research has initiated formal systematic screening of local patients in collaboration by the Endocrine and Genetic departments of Belfast University, and sparked wide scientific and public interest.
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