Research heralds new era for genetics

(Press-News.org) UNDER STRICT EMBARGO UNTIL 10AM (UK TIME) ON TUESDAY 1 OCTOBER 2024.  

Peer reviewed | Observational study | People 

 

Research led by scientists at Queen Mary University of London is heralding in a new era for genetic sequencing and testing.  

In the largest study of its kind to date, published today in Nature Medicine, an international group of researchers led by Queen Mary used new bioinformatics techniques to scan the genetic profiles of 80,000 people to understand the frequency of specific expansions of short repetitive DNA sequences in the general population. 

These expansions are the most common cause of inherited neurological conditions, known as repeat expansion disorders (REDs). The study’s results showed that REDs are up to three times more frequent than current estimates, which are based on clinical observation or disease diagnosis. It was also found that their frequency is common between different populations.  

Dr Arianna Tucci, Clinical Reader in Genomic Medicine at Queen Mary University of London who led the research, said: “This very important advance may indicate that REDs like Huntington’s disease are nearly three times more common than we think, meaning we’re underdiagnosing these conditions. Alternatively, the presence of certain DNA repeats may not lead to illness in some people. This could herald a major shift in how we think about genetic testing, profiling and counselling.   

“These findings were only possible because we are able to study whole genomes from the 100,000 Genomes Project in many individuals at scale. This represents a paradigm shift from traditional studies of small families with a history of a genetic condition to the analysis of large populations of individuals. Our next steps will be to study large cohorts of people that carry these genetic changes, to help us better understand what leads them to develop in certain individuals.” 

Dr Sarah Tabrizi, Professor of Clinical Neurology at the UCL Queen Square Institute of Neurology and co-author on the paper, said: “These results are extremely important. These data will force us as a community of researchers, academics and doctors to evaluate whether these DNA repeats address an unmet diagnostic need in rare neurological diseases, meaning the investigation of repeat expansion disorders deserves much more close attention now.” 

 

ENDS  

  

NOTES TO EDITORS  

Examples of RED conditions include Fragile X syndrome, the commonest inherited form of amyotrophic lateral sclerosis and frontotemporal dementia, Huntington’s disease, inherited ataxias (Friedreich ataxia), and RFC1-Cerebellar Ataxia, Neuropathy, Vestibular Areflexia syndrome (CANVAS). 

  

Contact  

Honey Lucas   

Faculty Communications Officer – Medicine and Dentistry   

Queen Mary University of London   

Email: h.lucas@qmul.ac.uk or press@qmul.ac.uk   

  

Paper details:    

Kristina Ibañez, et al. “Increased frequency of repeat expansion mutations across different populations.” Published in Nature Medicine.   DOI: 10.1038/s41591-024-03190-5  Available after publication at:  https://www.nature.com/articles/s41591-024-03190-5  Under strict embargo until 10am (UK time) on Tuesday 1 October 2024.  

A copy of the paper is available upon request.  

Conflicts of interest:  The authors declare no competing interests. 

Funded by: This research is funded by Medical Research Council, Department of Health and Social Care, National Health Service England, National Institute for Health Research, and Barts Charity. 

  

About Queen Mary    

www.qmul.ac.uk      

At Queen Mary University of London, we believe that a diversity of ideas helps us achieve the previously unthinkable.   

Throughout our history, we’ve fostered social justice and improved lives through academic excellence. And we continue to live and breathe this spirit today, not because it’s simply ‘the right thing to do’ but for what it helps us achieve and the intellectual brilliance it delivers.     

Our reformer heritage informs our conviction that great ideas can and should come from anywhere. It’s an approach that has brought results across the globe, from the communities of east London to the favelas of Rio de Janeiro.     

We continue to embrace diversity of thought and opinion in everything we do, in the belief that when views collide, disciplines interact, and perspectives intersect, truly original thought takes form.    

  

About UCL – London’s Global University 

UCL is a diverse global community of world-class academics, students, industry links, external partners, and alumni. Our powerful collective of individuals and institutions work together to explore new possibilities. 

Since 1826, we have championed independent thought by attracting and nurturing the world's best minds. Our community of more than 50,000 students from 150 countries and over 16,000 staff pursues academic excellence, breaks boundaries and makes a positive impact on real world problems. 

The Times and Sunday Times University of the Year 2024, we are consistently ranked among the top 10 universities in the world and are one of only a handful of institutions rated as having the strongest academic reputation and the broadest research impact.  

We have a progressive and integrated approach to our teaching and research – championing innovation, creativity and cross-disciplinary working. We teach our students how to think, not what to think, and see them as partners, collaborators and contributors.   

For almost 200 years, we are proud to have opened higher education to students from a wide range of backgrounds and to change the way we create and share knowledge.  

We were the first in England to welcome women to university education and that courageous attitude and disruptive spirit is still alive today. We are UCL. 

 

END