Genetics breakthrough published in prestigious research journal


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Posted on 15 December 2014
Researchers based at the Institute for Science and Technology in Medicine (ISTM) and as members of a multi-national consortium have identified a genetic defect responsible for early-onset gigantism in children of various ethnic origins. The genetic defect is heritable and can, therefore, be passed from one generation to another.
 
The findings are reported in the New England Journal of Medicine (NEJM). The journal receives more than 5,000 manuscripts each year for consideration and of these submissions accepts less than 5% for publication.
 
The study also found that the same genetic defect can lead in adults to a condition termed acromegaly. This condition shares many of the features of childhood gigantism including those where particular bones show inappropriate overgrowth. The investigations required detailed genetic studies of pituitary tissue derived not only from those suffering from these conditions but also their family members.
 
The families were identified and recruited into the study across national and international boundaries together with the scientific input and expertise from a large international team comprising approximately 50 investigators. Professor Bill Farrell, ISTM, is the only UK contributor to the study and as a member of the team is a co-author on the research paper.
 
The study represents the first to follow on from Professor Farrell's re-appointment earlier this year as NIH Associate Investigator and his invitation to present as a Grand Rounds lecturer at the NIH in Washington USA and at Harvard Medical School in Massachusetts.

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