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

    Escalation of Media Crackdown in Turkey Heightens Concerns

    Critics see 'a new dark age' as arrests of journalists, closures of media outlets by Erdogan government mount

    Russia Boasts of Troop Buildup on Flank, Draws Flak

    Russian military moves counter to efforts to de-escalate tensions, State Department says

    What Take-out Food Reveals About American History

    From fast-food restaurants to pizza delivery, here's what the history of take-out food tells us about changes in American society

    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.
    Immigrant Delegate Marvels at Democratic Processi
    X
    Katherine Gypson
    July 27, 2016 6:21 PM
    It’s been a bitter and divisive election season – but first time Indian-American delegate Dr. Shashi Gupta headed to the Democratic National Convention with a sense of hope. VOA’s Katherine Gypson followed this immigrant with the love of U.S. politics all the way to Philadelphia.
    Video

    Video Immigrant Delegate Marvels at Democratic Process

    It’s been a bitter and divisive election season – but first time Indian-American delegate Dr. Shashi Gupta headed to the Democratic National Convention with a sense of hope. VOA’s Katherine Gypson followed this immigrant with the love of U.S. politics all the way to Philadelphia.
    Video

    Video A Life of Fighting Back: Hillary Clinton Shatters Glass Ceiling

    Hillary Clinton made history Thursday, overcoming personal and political setbacks to become the first woman to win the presidential nomination of a major U.S. political party. If she wins in November, she will go from “first lady” to U.S. Senator from New York, to Secretary of State, to “Madam President.” Polls show Clinton is both beloved and despised. White House Correspondent Cindy Saine takes a look at the life of the woman both supporters and detractors agree is a fighter for the ages.
    Video

    Video Dutch Entrepreneurs Turn Rainwater Into Beer

    June has been recorded as one of the wettest months in more than a century in many parts of Europe. To a group of entrepreneurs in Amsterdam the rain came as a blessing, as they used the extra water to brew beer. Serginho Roosblad has more to the story.
    Video

    Video First Time Delegate’s First Day Frustrations

    With thousands of people filling the streets of Philadelphia, Pennsylvania for the 2016 Democratic National Convention, VOA’s Kane Farabaugh narrowed in on one delegate as she made her first trip to a national party convention. It was a day that was anything but routine for this United States military veteran.
    Video

    Video Commerce Thrives on US-Mexico Border

    At the Democratic Convention in Philadelphia this week, the party’s presumptive presidential nominee, Hillary Clinton, is expected to attack proposals made by her opponent, Republican presidential nominee Donald Trump, to build a wall along the U.S.-Mexico border. Last Friday, President Barack Obama hosted his Mexican counterpart, President Enrique Peña Nieto, to underscore the good relations between the two countries. VOA’s Greg Flakus reports from Tucson.
    Video

    Video Film Helps Save Ethiopian Children Thought to be Cursed

    'Omo Child' looks at effort of African man to stop killings of ‘mingi’ children
    Video

    Video London’s Financial Crown at Risk as Rivals Eye Brexit Opportunities

    By most measures, London rivals New York as the only true global financial center. But Britain’s vote to leave the European Union – so-called ‘Brexit’ – means the city could lose its right to sell services tariff-free across the bloc, risking its position as Europe’s financial headquarters. Already some banks have said they may shift operations to the mainland. Henry Ridgwell reports from London.
    Video

    Video Recycling Lifeline for Lebanon’s Last Glassblowers

    In a small Lebanese coastal town, one family is preserving a craft that stretches back millennia. The art of glass blowing was developed by Phoenicians in the region, and the Khalifehs say they are the only ones keeping the skill alive in Lebanon. But despite teaming up with an eco-entrepreneur and receiving an unexpected boost from the country’s recent trash crisis the future remains uncertain. John Owens reports from Sarafand.
    Video

    Video Migrants Continue to Risk Lives Crossing US Border from Mexico

    In his speech Thursday before the Republican National Convention, the party’s presidential candidate, Donald Trump, reiterated his proposal to build a wall along the U.S.-Mexico border if elected. Polls show a large percentage of Americans support better control of the nation's southwestern border, but as VOA’s Greg Flakus reports from the border town of Nogales in the Mexican state of Sonora, the situation faced by people trying to cross the border is already daunting.
    Video

    Video In State of Emergency, Turkey’s Erdogan Focuses on Spiritual Movement

    The state of emergency that Turkish President Recep Tayyip Erdogan has declared is giving him even more power to expand a purge that has seen an estimated 60,000 people either arrested or suspended from their jobs. VOA Europe correspondent Luis Ramirez reports from Istanbul.
    Video

    Video Calm the Waters: US Doubles Down Diplomatic Efforts in ASEAN Meetings

    The United States is redoubling diplomatic efforts and looking to upcoming regional meetings to calm the waters after an international tribunal invalidated the legal basis of Beijing's extensive claims in the South China Sea. VOA State Department correspondent Nike Ching has the story.
    Video

    Video Scientists in Poland Race to Save Honeybees

    Honeybees are in danger worldwide. Causes of what's known as colony collapse disorder range from pesticides and loss of habitat to infections. But scientists in Poland say they are on track to finding a cure for one of the diseases. VOA’s George Putic reports.

    Special Report

    Adrift The Invisible African Diaspora