Recent studies into the genetics of a rare medical condition discovered a unique gene abnormality in patients from East Tyrone and South Derry in Northern Ireland. Scientists are hoping that with the help of local people they can further their research and are inviting everyone over the age of eighteen from East Tyrone and South Derry to help them. A crucially important aspect of the management of this disease is its early recognition, and this research will, amongst other benefits, greatly support this goal.

The condition, called acromegaly, affects the pituitary gland which controls many functions of the body including hormone production and can impact on a person in many different ways. If the disease starts in childhood (over 50% of the cases associated with the gene abnormality), and is not recognised and treated in time, it can lead to the devastating condition of gigantism.

The areas around Dungannon, Coalisland, Cookstown and Magherafelt are felt to be of particular interest because a number of patients from this region have been diagnosed with conditions relating to the disease

One of Tyrone’s most famous historical figures was Charles Byrne, the Irish Giant, who featured in a recent BBC documentary. Charles Byrne was born just outside Cookstown in 1761 and grew to almost eight feet tall. We have identified that both Charles Byrne and the current living patients from the area have a particular DNA mutation which caused them to have a disease that affected their growth and this alteration in the DNA can be passed from generation to generation. We are interested to learn how common this particular DNA mutation is in the local population.

A team of doctors and scientists from Belfast and London will be visiting Dungannon, Coalisland, Cookstown and Magherafelt over the weekends of 8th-9th February and 1st-2nd March, and people are being asked to give a saliva sample that will determine whether or not the person is a carrier of the condition. Your contribution to this will greatly further our research and we wish to invite you, if your family is from East Tyrone or South Derry, to attend one of our test centres on the 8th and 9th of February at the Tesco carpark in Cookstown from 8am until 8pm or on the 1st and 2nd of March at the Tesco Carpark in Dungannon from 8am until 8pm.

Identifying this mutation in the local population will enable us to find those people who are carriers and better advise them, helping to prevent disease in their family. It will also significantly contribute to medical knowledge of this particular illness, and may provide an answer as to why some people are able to carry this DNA mutation without developing the condition whereas others develop aggressive disease often in childhood.

The DNA collection process is very simple and involves the collection of a saliva sample by spitting into a tube. We expect the whole visit to last no more than 10 minutes. No booking is required, please come whenever you are available.

You will be able to receive information about your own test results if you wish. If your test result suggests that you do carry the genetic abnormality we will refer you to the Genetic Clinic in Belfast for further advice and confirmation of the test result. Further screening of your family can then be arranged with the help of the Genetic Clinic.

If you would like to read further information please click here.

Further details of this disease can be found on this website website.

If you wish to see a docudrama about the life of Charles Byrne, please click here.

If you wish to listen to a talk for the general public about the discovery of the abnormal gene in the Northern Irish population please click here.

Please do not hesitate to ask any questions through this email: info@fipapatients.org