The study, published in The American Journal of Human Genetics, detected and identified a new disease gene (ERCC6L2). In its normal form, the gene plays a key role in protecting DNA from damaging agents, but when the gene is mutated the cell is not able to protect itself in the normal way.
The research findings suggest that the gene defect and the subsequent DNA damage was the underlying cause of bone marrow failure among the study participants.
Bone marrow failure is a term used for a group of life threatening disorders associated with an inability of the bone marrow to make an adequate number of mature blood cells.
Patients were recruited from all over the world to join an international bone marrow failure registry and researchers used new DNA sequencing technologies to study cases of bone marrow failure with similar clinical features. These included bone marrow failure associated with neurological abnormalities (learning defects and developmental delay), and patients whose parents were first cousins.
The findings mean it is now possible to carry out a reliable genetic test (including antenatal testing) in these families and get an accurate diagnosis. In the long term, with further research, the findings could lead to the development of new treatment for this specific gene defect.
Professor Inderjeet Dokal, Chair of Paediatrics and Child Health at Queen Mary University of London, comments:
"New DNA sequencing technology has enabled us to identify and define a new gene defect which causes a particular type of bone marrow failure. This is a promising finding which we hope one day could lead to finding an effective treatment for this type of gene defect. Clinicians treating patients with bone marrow failure should now include analysis for this gene in their investigation.
"Now we know this research technique works, we plan to carry out further studies to shed more light on the genetic basis of many other cases of bone marrow failure."
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Notes to the editor
A link to the full paper can be found here:
We would like to thank the Wellcome Trust and Medical Research Council for funding this research. We also wish to thank the members of our lab, particularly Hemanth Tummala and Michael Kirwan, as well as the clinicians and patients, for making it possible to undertake these research studies.
About Queen Mary University of London
Queen Mary University of London is one of the UK's leading research-focused higher education institutions with 17,000 undergraduate and postgraduate students.
A member of the Russell Group, QM is amongst the largest of the colleges of the University of London. QM's 4,000 staff deliver world-class degrees and research across 21 academic departments and institutes, within three Faculties: Science and Engineering; Humanities and Social Sciences; and the School of Medicine and Dentistry.
Queen Mary is ranked 11th in the UK according to the Guardian analysis of the 2008 Research Assessment Exercise, and has been described as 'the biggest star among the research-intensive institutions' by the Times Higher Education. In 2012, a Queen Mary study was awarded Research Project of the Year at the Times Higher Education Awards. The university has been nominated again in 2013.
In 2014, Queen Mary was positioned 35th among 130 UK universities in the Complete University Guide and 36th according to the Guardian University Guide. The 2013-4 QS World Rankings placed us 115th of 700 universities worldwide and 19th in the UK, while the 2013 Shanghai Jiao Tong Academic Rankings of World Universities placed us in the top 30 in the UK and in the top 201-300 bracket worldwide.
QM has a strong international reputation, with around 20 per cent of students coming from over 150 countries. The university has an annual turnover of £350m, research income worth £100m, and generates employment and output worth £700m to the UK economy each year.
QM is unique amongst London's universities in being able to offer a completely integrated residential campus, with a 2,000-bed award-winning Student Village on its Mile End campus.