News / Health

Genetic Test Pinpoints Cause of Patient Illness

Successful treatment highlights value of whole-genome sequencing

An individualized approach to diagnosis and treatment - using whole-genome sequencing - could move out of the research lab and into the doctor's office in the next few years.
An individualized approach to diagnosis and treatment - using whole-genome sequencing - could move out of the research lab and into the doctor's office in the next few years.

Multimedia

Audio
Art Chimes

About a decade ago, scientists decoded the human genome, creating a gene-by-gene map of our DNA. In the decade since, genetic research has accelerated, but mostly it's stayed in the laboratory. Now, genetic science is taking its first steps into medical practice.

The Beery twins were born in 1996, and were diagnosed with cerebral palsy two years later. But as the children got older, their symptoms suggested a different diagnosis, a lack of the neurotransmitter dopamine. Around age six, the twins started taking a drug called L-dopa, which dramatically lessened their muscle spasms and other symptoms.

Fast forward a decade or so, and new symptoms appeared. To see what other factor might be at work, a team at the Baylor College of Medicine in Texas analyzed DNA samples from each of the twins, looking for a mutation that might be responsible.

Genetic tests then available didn't find anything unusual, however researcher Matthew Bainbridge says sequencing the entire genome of each of the twins later identified mutated copies of a gene called SPR (sepiapterin reductase).

"But mutations in SPR mean that, not only do you not make dopamine in the brain, you also don't make serotonin. And so these kids were getting this L-dopa treatment, which helped them with their lack of dopamine, but they weren't getting anything for their serotonin," he says.

A serotonin supplement was added to their medications, and within a month their mother says there were noticeable improvements in Alexis Beery's breathing and in her twin brother Noah's school work.

It seems almost every week there's a story about scientists who have identified a gene linked to some disease or another. Those discoveries are important, but Bainbridge says the Beery case represents something else.

"The difference is that we can actually do something, because we found these mutations and we knew that they were causing the disease. We could actually change the therapy the children got," Bainbridge says.

Whole-genome sequencing is still an expensive, specialized activity. But the cost is coming down, and Bainbridge says this individualized approach to diagnosis and treatment may move out of the research lab and into the doctor's office, at least for some conditions, in as little as two to three years.

"I think eventually it will be routine. I can imagine a future - and not too distantly, in five to ten years - where children will be born and their whole genome will be sequenced immediately."

Bainbridge and his colleagues describe their work in the journal Science Translational Medicine.

You May Like

Video One Year After Thai Coup, No End in Sight for Military Rule

Since carrying out the May 22, 2014 coup, the general has retired from the military but is still firmly in charge More

Goodbye, New York

This is what the fastest-growing big cities in America have in common More

Job-Seeking Bangladeshis Risk Lives to Find Work

The number of Bangladeshi migrants on smugglers’ boats bound for Southeast Asian countries has soared in the past two years More

This forum has been closed.
Comments
     
There are no comments in this forum. Be first and add one

Featured Videos

Your JavaScript is turned off or you have an old version of Adobe's Flash Player. Get the latest Flash player.
Turkey's Main Opposition Party Hopes for Election Breakthroughi
X
May 22, 2015 10:23 AM
Turkey’s main opposition Republican People’s Party has sought an image change ahead of the June 7 general election. The move comes after suffering successive defeats at the hands of the Islamist-rooted AK Party, which has portrayed it as hostile to religion. Dorian Jones reports from the western city of Izmir.
Video

Video Turkey's Main Opposition Party Hopes for Election Breakthrough

Turkey’s main opposition Republican People’s Party has sought an image change ahead of the June 7 general election. The move comes after suffering successive defeats at the hands of the Islamist-rooted AK Party, which has portrayed it as hostile to religion. Dorian Jones reports from the western city of Izmir.
Video

Video Europe Follows US Lead in Tackling ‘Conflict Minerals’

Metals mined from conflict zones in places like the Democratic Republic of Congo are often sold by warlords to buy weapons. This week European lawmakers voted to force manufacturers to prove that their supply chains are not inadvertently fueling conflicts and human rights abuses. Henry Ridgwell reports from London.
Video

Video Class Tackles Questions of Race, Discrimination

Unrest in some U.S. cities is more than just a trending news item at Ladue Middle School in St. Louis, Missouri. As VOA’s Kane Farabaugh reports, it’s a focus of a multicultural studies class engaging students in wide-ranging discussions about racial tensions and police aggression.
Video

Video Mind-Controlled Prosthetics Are Getting Closer

Scientists and engineers are making substantial advances towards the ultimate goal in prosthetics – creation of limbs that can be controlled by the wearer’s mind. Thanks to sophisticated sensors capable of picking up the brain’s signals, an amputee in Iceland is literally bringing us one step closer to that goal. VOA’s George Putic reports.
Video

Video Afghan Economy Sinks As Foreign Troops Depart

As international troops prepare to leave Afghanistan, and many foreign aid groups follow, Afghans are grappling with how the exodus will affect the country's fragile economy. Ayesha Tanzeem reports from the Afghan capital, Kabul.
Video

Video Poverty, Ignorance Force Underage Girls Into Marriage

The recent marriage of a 17-year old Chechen girl to a local police chief who was 30 years older and already had a wife caused an outcry in Russia and beyond. The bride was reportedly forced to marry and her parents were intimidated into giving their consent. The union spotlighted yet again the plight of many underage girls in developing countries. Zlatica Hoke reports poverty, ignorance and fear are behind the practice, especially in Asia and Africa.
Video

Video South Korea Marks Gwangju Uprising Anniversary

South Korea this week marked the 35th anniversary of a protest that turned deadly. The Gwangju Uprising is credited with starting the country’s democratic revolution after it was violently quelled by South Korea’s former military rulers. But as Jason Strother reports, some observers worry that democracy has recently been eroded.
Video

Video California’s Water System Not Created To Handle Current Drought

The drought in California is moving into its fourth year. While the state's governor is mandating a reduction in urban water use, most of the water used in California is for agriculture. But both city dwellers and farmers are feeling the impact of the drought. Some experts say the state’s water system was not created to handle long periods of drought. Elizabeth Lee reports from Ventura County, an agricultural region just northwest of Los Angeles.
Video

Video How to Clone a Mammoth: The Science of De-Extinction

An international team of scientists has sequenced the complete genome of the woolly mammoth. Led by the Swedish Museum of Natural History in Stockholm, the work opens the door to recreate the huge herbivore, which last roamed the Earth 4,000 years ago. VOA’s Rosanne Skirble considers the science of de-extinction and its place on the planet
Video

Video Blind Boy Defines His Life with Music

Cole Moran was born blind. He also has cognitive delays and other birth defects. He has to learn everything by ear. Nevertheless, the 12-year-old has had an insatiable love for music since he was born. VOA’s June Soh introduces us to the young phenomenal harmonica player.

VOA Blogs