6th January 2011
Mark Thomas, together with Prof David Balding (GEE, UCL), Prof Joachim Burger (Mainz, Germany) and a number of others, co-authored a study led by Marta Korbonits, professor of endocrinology and metabolism at Barts and the London NHS Trust, titled 'AIP mutation in pituitary adenomas in the 18th century and today'. The article was published in the New England Journal of Medicine (Chahal et al) and attracted worldwide media interest. It involved the extraction, sequencing and analysis of DNA from the skeleton of a famous 18th century giant who originated in Northern Ireland, Charles Byrne, as well as people living in Ireland today. The authors were able to use the data they obtained to show that Byrne, as well as the various patients alive today, carried the same mutation (in the AIP gene). They also showed that the mutation originated some 1500 years ago and that is is probably carried by around 200 to 300 living people. It is now possible to use this information to identify and treat people who are at risk of developing gigantism and acromegaly today.
“The striking thing about this research is that with modern genetic techniques we can say so much about somebody who died so long ago and use that information to identify and treat people at risk today.” - Mark Thomas
If you wish to know more, or believe that you are affected by Familial
Isolated Pituitary Adenoma (FIPA), please click here
|AIP mutation in pituitary adenomas in the 18th century and today, published in the New England Journal of Medicine.|