Page URL:

Has personalised medicine arrived? Genome scan used to identify rare condition

20 June 2011
Appeared in BioNews 612

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 that cause their rare neurological condition, dopamine-responsive dystonia (DRD). The research offers a glimpse into how individual WGS could one day be used to provide personalised medical care, Reuters reports.

DRD is known to be caused by mutations in three genes. Using WGS, researchers and physicians at Texas' Baylor Genome Sequencing Center and the Texas Children's Hospital found the twins didn't have mutations in two genes commonly mutated in DRD. They pinned down the twin's genetic mutations to a third gene, SPR, which plays a critical role in serotonin production. Adding a serotonin-inducing supplement to the twins' medication dramatically improved their symptoms.

Dr Matthew Bainbridge from the Baylor Genome Sequencing Center, who led the study, told Reuters: 'If you saw them today, you'd say there was nothing wrong with them'. He added that, with the cost of sequencing currently halving every six months: 'It's our hope that in two years or maybe even a year whole genome sequencing will be more widely available'.

Retta Beery, the twins' mother, said they have been able to resume normal activities, including sport: 'Now, because of the sequencing, Alexis started on this new amino acid and she started back in track in March'. She added: 'She's been winning races'.

Professor Richard Gibbs, director of the Baylor Center, was encouraged by the research, telling the Houston Chronicle that it was 'one more brick in the wall' to understand the human genome and how it interacts with human health.

The symptoms of DRD are similar to that of Parkinson's Disease and include slow movement, tremors and balance difficulties. The findings are published in the current issue of Science Translational Medicine.

Genome study solves twins' mystery illness
Reuters |  15 June 2011
Personal genome map solves Calif. teen's illness
CBC News |  16 June 2011
The era of personalized medicine begins: Physicians use whole genome sequence to improve medical care
Houston Chronicle Blog |  15 June 2011
Twins' recovery a key step in genetic medicine, thanks to Baylor Med
Houston Chronicle |  15 June 2011
28 November 2011 - by Dr Rosie Morley 
An initiative has been launched to collect genetic data from NHS cancer patients in the hope of developing new, personalised treatments....
8 August 2011 - by Dr Jay Stone 
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...
8 August 2011 - by Dr Kimberley Bryon-Dodd 
The NHS is 'unprepared' to deal with personalised medicine in the clinic, according to Sir John Bell - the UK Government's chief genetics advisor - during an interview with the Times. His comments come as a four-year-old girl last week became Britain's first person to have a rare genetic disease identified through DNA sequencing...
27 June 2011 - by Julianna Photopoulos 
A saliva sample can determine a person’s age to within five years, according to research published in the journal PLoS One...
4 May 2010 - by Dr Sophie Pryor 
Whole genome analysis has been used for the first time to gather clinically-useful information about the risk of developing diseases later in life. Stephen Quake, an apparently healthy, middle-aged professor of bioengineering at Stanford University in California, volunteered to have his entire genetic code screened. He was found to be at increased risk of developing diabetes, some cancers and of having a heart attack...
22 February 2010 - by Maren Urner 
A fast, low cost DNA test that can reveal a person's chances of developing certain inherited diseases could soon be a reality, scientists in Scotland have said. The test involves testing a patient's saliva to identify disease-related variations in their genetic code and is faster and cheaper than conventional methods, according to the study published in the journal Angewandte Chemie....
27 January 2008 - by Dr Jess Buxton 
An international project to read the entire genetic code of at least 1000 individuals will result in a comprehensive catalogue of human variation that will accelerate efforts to identify genetic factors involved in health and disease, scientists announced last week. The '1000 Genomes Project' will take...
30 May 2007 - by Danielle Hamm 
There are fears that 'personal genomics' will develop as a tool for the rich and famous, rather than for the benefit of humanity at large, according to a news article in the journal Nature. At a recent scientific meeting, 454 Life Sciences, a US based sequencing technology...
10 October 2005 - by BioNews 
Japanese companies have built a desk-top machine that allows doctors to check their patients' DNA before writing a prescription, the journal Nature reports. The device, which they say will be on sale for five million yen (£25,000) in a year's time, uses a single drop of blood and delivers results...
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.