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Twins, 14, cured of mystery illness after doctors sequence their entire genetic code to find the cause
By DAILY MAIL REPORTER
Last updated at 3:20 PM on 16th June 2011
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Teenagers' mother refused to accept cerebral palsy diagnosis
When doctors told Retta Beery her twins Noah and Alexis had cerebral palsy 13 years ago, she was not convinced by the diagnosis.
Their strange collection of symptoms included breathing problems, vomiting and involuntary spasms, and left Alexis unable to walk and close to death.
They finally found the true cause – and a cure – after the youngsters both had their whole genome sequenced. It turned up a defect that caused a deficiency in two brain chemicals.
DNA cure: Alexis and Noah Beery seen here with their parents next to a gene sequencer in the research lab where their entire genetic code was studied
Doctors gave them dopamine and serotonin-inducing supplements and now both teenagers from San Diego, California, are thriving. Alexis is even winning track races at school.
'If you saw them today, you'd say there was nothing wrong with them,' said Dr Matthew Bainbridge of Baylor Genome Sequencing Center in Texas, whose research appears in the journal Science Translational Medicine.
It is one of the first examples where mapping a person’s genetic code has led to improved health and shows the potential of personalised treatment.
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Whole genome sequencing technology allows researchers to read all the little bits of code that are the building blocks of DNA, which determine how we are made and what we look like.
But at a cost of £6,000 to £12,000 per patient, the technology is still out of reach for most people.
Retta and her husband Joe realised there was something wrong with their twins soon after they were born.
They cried nonstop, vomited and suffered frequent tremors, had poor muscle tone and missed developmental milestones set by their older brother Zach.
Back on the running track: Alexis and Noah Beery suffered from muscle weakness and spasms. They were finally diagnosed and cured when doctors found the answer in their DNA
Mrs Beery took them to dozens of specialist who took blood samples and brain scans. When the twins were two doctors concluded that cerebral palsy explained their movement problems.
However, Retta suspected the diagnosis was wrong by the time they were five. She said her Alexis would wake up able to walk but by late morning couldn't even sit up or use her arms.
Her relentless search led the children to Dr John Fink of the University of Michigan. He diagnosed them with dopa-responsive dystonia (DRD), a complex movement disorder involving the loss of the neurotransmitter dopamine.
The muscles of people with dystonia contract and spasm involuntarily. When the twins were given a drug called L-dopa, which substituted for the neurotransmitter dopamine that they lacked, they responded quickly.
But there were still some lingering symptoms, and six years ago, Alexis developed a cough that became increasingly debilitating.
When she was 12 she stopped breathing and almost died. Paramedics had to revive her twice.
'It turned from this horrible cough into this massive breathing problem. We were back in the arena of specialists, trying to figure out what was going on,' Mrs Beery said.
As luck would have it, the twins' father had recently taken a job as chief information officer for Life Technologies, maker of gene sequencing machines.
The couple approached the company and asked if their children could have their genomes sequenced through a joint project with Baylor College of Medicine in San Diego.
When the researchers analyzed raw DNA sequence data from the twins' genomes, they were surprised to find no mutations in the two genes commonly mutated in DRD.
Instead, the team discovered that the twins carried a mutated gene related to serotonin production that made them deficient in both dopamine and serotonin, another neurotransmitter.
Adding a serotonin-inducing supplement called 5-HTP to their dopamine regimen improved their symptoms dramatically after just a few weeks.
'Now, because of the sequencing, Alexis started on this new amino acid and she started back in track in March,' Retta Beery said.
'She's been winning races.'
Lead researcher Matthew Bainbridge from Baylor, said personalised medicine could soon be affordable as sequencing costs fall.
He said currently the price of sequencing is dropping by half every six months.
'It's our hope that in two years or maybe even a year whole genome sequencing will be more widely available,' he said.
'We'd like everyone to be able to have this.'
Read more: http://www.dailymail.co.uk/health/article-2004170/Personalised-medicine-Twins-14-cured-mystery-illness-doctors-sequence-entire-genetic-code-cause.html#ixzz1PvRO78o4
posted on June 16, 2011