The Fertility Show, Manchester Central, 24-25 March 2018
Page URL:

Genetic mystery solved as the first Briton has their whole genome sequenced

8 August 2011
Appeared in BioNews 619

Four-year-old Katie Warner from Oxford has become the first person in Britain to have her whole genome sequenced in order to locate the mutation that causes her skull abnormality.

Katie suffers from craniosynostosis, a disorder where the bones in the skull fuse before the brain has stopped growing. This results in restricted brain growth, causing intercranial pressure, as well as breathing and learning difficulties.

Scientists at the Wellcome Trust Centre for Human Genetics in Oxford sequenced Katie's entire genome along with the genomes of her parents, John and Maria, and identified a single DNA base change in a gene called HUWE1 on her X chromosome. Neither of Katie's parents has the mutation, meaning it must have occurred spontaneously. This information gives a firm diagnosis and assures the parents that the risk of the condition being passed onto further children will be very low. Confirmation of the disorder and the genetic flaw responsible will help with her genetic counselling, as well as providing accurate information on how it might affect Katie's potential children.

Mr Warner said the findings had come as a relief. 'Not having a firm diagnosis has been difficult', he said. 'We might now have a label that makes everything crystal clear'.

The cost of sequencing an entire genome is beginning to decrease but currently the NHS does not provide it as a diagnostic tool. Katie was referred to Professor Andrew Wilkie, a consultant clinical geneticist at the University of Oxford who specialises in craniofacial disorders. Professor Wilkie is involved in an Oxford research project supported by Illumina, a DNA sequencing company, which is sequencing the genomes of 500 people with serious diseases. The teams intend to use the information gathered to explore the potential for the use of whole-genome sequencing in the diagnosis and treatment of individual patients in years to come.

'This collaboration represents a remarkable and very important step toward using whole-genome sequencing for translational medicine – where a patient's individual genetic information can be used to make key healthcare decisions', said David Bentley, vice president and chief scientist at Illumina. 'We are excited to be working with Oxford on this effort. This collaboration also will help Illumina advance its technology to better meet the specific needs of clinical environments'.

18 March 2013 - by Matthew Thomas 
The stump of Mandy's amputated left leg is one metre in circumference, the size of an old vinyl record. Mandy Sellars has a rare genetic condition that meant her legs continued to grow after the rest of her body stopped...
11 February 2013 - by James Brooks 
Scientists led by a team from Oxford University have identified mutations in two genes that lead to a serious skull condition...
31 January 2012 - by Ruth Saunders 
Swiss pharmaceutical company Roche has made an unsolicited bid worth $5.7 billion to takeover US DNA sequencing firm Illumina....
9 January 2012 - by Rachel Lloyd 
Personalised healthcare could be one step closer this year, as doctors from the prestigious US Mayo Clinic embark on a project to sequence the full genetic code of thousands of people...
19 September 2011 - by Ruth Saunders 
News reports that researchers have linked a certain gene to a disease, condition or trait appear almost daily. The most recent include multiple sclerosis, ovarian cancer, schizophrenia and even intelligence...
19 September 2011 - by Dr Rebecca Hill 
The first interpretation of a family's health risks using whole genome data has been carried out by US researchers. The team, from the Stanford University School of Medicine, looked at the DNA sequences of both parents and two children in this, the second reported study of a four-person family of genomes...
12 September 2011 - by Oliver Timmis 
On 25 July 2011 the Wellcome Trust turned 75, and to celebrate they have commissioned a collection of 15 stories based on some of the most interesting people they have funded...
1 August 2011 - by Dr Charlotte Maden 
Two new initiatives have been launched by Cancer Research UK, aiming to increase the understanding of prostate and oesophageal cancers which will speed up the development of personalised treatments for patients....
18 July 2011 - by Mehmet Fidanboylu 
Two scientists claim to have pushed the boundaries of what can be learned about the ancestral history of the human race from one person's genome. Dr Richard Durbin and Dr Heng Li from the UK's Wellcome Trust Sanger Institute in Cambridge used information from the genomes of only seven individuals...
20 June 2011 - by Ruth Pidsley 
US scientists have reported possibly the first example of using one person's genetic sequence to refine a diagnosis and provide personalised medical treatment. Whole-genome sequencing (WGS) helped pinpoint defects in the DNA of 14-year-old fraternal twins Noah and Alexis Beery causing their rare neurological condition, dopamine-responsive dystonia (DRD)...
3 May 2011 - by Mehmet Fidanboylu 
Two US studies have demonstrated how whole-genome screening can help improve cancer treatment and diagnosis. The researchers claim to have taken a major step towards using this type of screening to help predict patients' responses to different treatments based on their genetics...
Log in to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.