News / Health

    Rapid Genome Sequencing Potentially Saves Newborns' Lives

    In genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventionsIn genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventions
    x
    In genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventions
    In genetic diseases for which treatments exist, rapid diagnosis is critical for neonatal interventions
    Jessica Berman
    Researchers have developed a powerful DNA-reading computer program that can diagnose potentially fatal genetic disorders in newborns in only two days, instead of the several weeks now required.  The technology means that infants born with these disorders can receive immediate, life-saving treatment.

    Doctors know of at least 3,500 diseases caused by a single defective gene.  Most of the newborns who wind up in neonatal intensive care units are critically ill with one of these genetic disorders.
     
    Treatments are available for about 500 of the diseases.  But physicians often work against the clock.  Some of these genetic disorders are not easy to diagnose on the basis of symptoms alone.  Whole-genome sequencing -- scanning the newborn's DNA for suspect genes -- usually takes between four and six weeks, and many babies die before the test results are returned.

    But Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital in Kansas City, Missouri, says new sequencing software developed by researchers casts a wide net over the entire human genome.  That genome consists of 3 billion base pairs of DNA molecules.  Only about 20,000 to 25,000 genes in every DNA strand code for particular physical traits and diseases.

    The new software, Kingsmore says, makes a powerful DNA screening technology available for the first time to neonatal doctors.

    “That goes from taking a drop of blood from the baby, receiving an order from a physician, all the way back to reporting the results back to that physician.  We report [on] seven acutely ill babies in whom we performed this," he said. "And in six, we were able to provide a rapid molecular diagnosis.”

    The software focuses on parts of the genome that are relevant to a particular symptom or symptoms, helping doctors to search for the possible cause of a baby's congenital disorder.

    "We think this is going to transform the world of neonatology by allowing neonatologies practice medicine that [is] influenced by genomes.  Until now, they have really had to practice medicine blindfolded," Kingsmore explained.

    The so-called HIGH-Seq system, developed by the British company, Illumina, is not yet available outside Britain.  For the study, researchers at Mercy Hospital sent DNA samples across the Atlantic for sequencing, and researchers in Britain sent the results back as digital files on CDs.  Kingsmore says his center will receive a HIGH-Seq sequencing machine next month.

    In addition to newborns, Kingsmore says investigators have begun running genetic tests on parents to help narrow the search for inherited disorders.

    Researchers at Mercy Hospital hope eventually to make the DNA decoding tool available to doctors across the country.

    An article by Stephen Kingsmore and his colleagues describing the use of rapid DNA sequencing to diagnose sick newborns is published in the journal Science Translational Medicine.

    You May Like

    US Lawmakers Vow to Continue Immigrant Program for Afghan Interpreters

    Congressional inaction threatens funding for effort which began in 2008 and has allowed more than 20,000 interpreters, their family members to immigrate to US

    Brexit's Impact on Russia Stirs Concern

    Some analysts see Brexit aiding Putin's plans to destabilize European politics; others note that an economically unstable Europe is not in Moscow's interests

    US to Train Cambodian Government on Combating Cybercrime

    Concerns raised over drafting of law, as critics fear cybercrime regulations could be used to restrict freedom of expression and stifle political dissent

    Featured Videos

    Your JavaScript is turned off or you have an old version of Adobe's Flash Player. Get the latest Flash player.
    Baghdad Bikers Defy War with a Roari
    X
    June 28, 2016 10:33 AM
    Baghdad is a city of contradictions. War is a constant. Explosions and kidnappings are part of daily life. But the Iraqi capital remains a thriving city, even if a little beat up. VOA's Sharon Behn reports on how some in Baghdad are defying the stereotype of a nation at war by pursuing a lifestyle known for its iconic symbols of rebellion: motorbikes, leather jackets and roaring engines.
    Video

    Video Baghdad Bikers Defy War with a Roar

    Baghdad is a city of contradictions. War is a constant. Explosions and kidnappings are part of daily life. But the Iraqi capital remains a thriving city, even if a little beat up. VOA's Sharon Behn reports on how some in Baghdad are defying the stereotype of a nation at war by pursuing a lifestyle known for its iconic symbols of rebellion: motorbikes, leather jackets and roaring engines.
    Video

    Video Melting Pot of Immigrants Working to Restore US Capitol Dome

    The American Iron Works company is one of the firms working to renovate the iconic U.S. Capitol Dome. The company employs immigrants of many different cultural and national backgrounds. VOA’s Arman Tarjimanyan has more.
    Video

    Video Testing Bamboo as Building Material

    For thousands of years various species of bamboo - one of the world's most versatile plants - have been used for diverse purposes ranging from food and medicine to textiles and construction. But its use on a large scale is hampered because it's not manufactured to specific standards but grown in the ground. A University of Pittsburgh professor is on track to changing that. VOA’s George Putic reports.
    Video

    Video Orphanage in Iraqi City Houses Kids Who Lost their Parents to Attacks by IS

    An orphanage in Iraqi Kurdistan has become home to scores of Yazidi children who lost their parents after Islamic State militants took over Sinjar in Iraq’s Nineveh Province in 2014. Iraqi Kurdish forces backed by the U.S. airstrikes have since recaptured Sinjar but the need for the care provided by the orphanage continues. VOA’s Kawa Omar filed this report narrated by Rob Raffaele.
    Video

    Video Re-Opening Old Wounds in a Bullet-Riddled Cultural Landmark

    A cultural landmark before Lebanon’s civil war transformed it into a nest of snipers, Beirut’s ‘Yellow House’ is once again set to play a crucial role in the city.  Built in a neo-Ottoman style in the 1920s, in September it is set to be re-opened as a ‘memory museum’ - its bullet-riddled walls and bunkered positions overlooking the city’s notorious ‘Green Line’ maintained for posterity. John Owens reports from Beirut.
    Video

    Video Brexit Resounds in US Presidential Contest

    Britain’s decision to leave the European Union is resounding in America’s presidential race. As VOA’s Michael Bowman reports, Republican presumptive nominee Donald Trump sees Britain’s move as an affirmation of his campaign’s core messages, while Democrat Hillary Clinton sees the episode as further evidence that Trump is unfit to be president.
    Video

    Video New York Pride March A Celebration of Life, Mourning of Loss

    At this year’s march in New York marking the end of pride week, a record-breaking crowd of LGBT activists and allies marched down Manhattan's Fifth Avenue, in what will be long remembered as a powerful display of solidarity and remembrance for the 49 victims killed two weeks ago in an Orlando gay nightclub.
    Video

    Video NASA Juno Spacecraft, Nearing Jupiter, to Shed Light on Gas Giant

    After a five-year journey, the spacecraft Juno is nearing its destination, the giant planet Jupiter, where it will enter orbit and start sending data back July 4th. As Mike O'Sullivan reports from Pasadena, California, the craft will pierce the veil of Jupiter's dense cloud cover to reveal its mysteries.
    Video

    Video Orlando Shooting Changes Debate on Gun Control

    It’s been nearly two weeks since the largest mass shooting ever in the United States. Despite public calls for tighter gun control laws, Congress is at an impasse. Democratic lawmakers resorted to a 1960s civil rights tactic to portray their frustration. VOA’s Carolyn Presutti explains how the Orlando, Florida shooting is changing the debate.
    Video

    Video Tunisian Fishing Town Searches for Jobs, Local Development Solutions

    As the European Union tries to come to grips with its migrant crisis, some newcomers are leaving voluntarily. But those returning to their home countries face an uncertain future.  Five years after Tunisia's revolution, the tiny North African country is struggling with unrest, soaring unemployment and plummeting growth. From the southern Tunisian fishing town of Zarzis, Lisa Bryant takes a look for VOA at a search for local solutions.
    Video

    Video 'American Troops' in Russia Despite Tensions

    Historic battle re-enactment is a niche hobby with a fair number of adherents in Russia where past military victories are played-up by the Kremlin as a show of national strength. But, one group of World War II re-enactors in Moscow has the rare distinction of choosing to play western ally troops. VOA's Daniel Schearf explains.
    Video

    Video Muslim American Mayor Calls for Tolerance

    Syrian-born Mohamed Khairullah describes himself as "an American mayor who happens to be Muslim." As the three-term mayor of Prospect Park, New Jersey, he believes his town of 6,000 is an example of how ethnicity and religious beliefs should not determine a community's leadership. Ramon Taylor has this report from Prospect Park.

    Special Report

    Adrift The Invisible African Diaspora