Stories about: Information technology

Stress-induced stem cells debunked: The final word on STAP

In early 2014, controversy erupted when two papers in Nature indicated that exposing ordinary cells to stress—an acid bath or mechanical stress—could quickly and efficiently turn them into pluripotent stem cells, capable of developing into virtually all the tissues in the body.

The technique, called “stimulus-triggered acquisition of pluripotency,” or STAP, was lauded for its simplicity compared to other methods like nuclear transfer into egg cells or cellular reprogramming with a set of transcription factors.

Not so fast.

Six months later, the papers were retracted. And this week in Nature, a team led by George Q. Daley, MD, PhD, director of the Stem Cell Transplantation Program at Boston Children’s Hospital, and Peter Park, PhD, head of the Computational Genomics Group at Harvard Medical School (HMS) details what went wrong. In a companion paper, the Daley Lab provides a roadmap for verifying a cell’s pluripotent status.

Read the full story on the HMS website.

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An online portal for undiagnosed patients


Prospects are looking up for patients who have no explanation for their symptoms despite extensive investigations and testing. There’s a growing revolution in DNA diagnostics (see yesterday’s example) and ongoing work to bring clarity and meaning to sequencing data. Patients with similar symptoms can find each other like never before, and are increasingly empowered to lead in research and discovery.

Another small but important development was announced yesterday by the National Institutes of Health. The NIH’s Undiagnosed Diseases Network (UDN) has opened up a one-stop online portal called the UDN Gateway where patients and families can apply for access to expert team analysis and testing. (A referral letter from a provider is required.)

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Cloud-based complex care platform empowers clinicians and families alike

care coordination planningFor children with complex medical needs, care coordination across medical specialties is a major pain point, as is communication across multiple provider systems. And patients aren’t the only ones feeling the burden. Consider these startling statistics:

  • $25-$45 billion is wasted annually in the U.S. due to poor communication in health care.
  • $45 billion has been invested in tools that record and bill for care, but don’t manage care.
  • 40 percent of medical malpractice claims stem from poor communication.

Isaac Kohane, MD, PhD, and Kenneth Mandl, MD, of the Boston Children’s Hospital Computational Health Informatics (CHIP) program, felt care coordination was an area ripe for a technological solution.

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Undiagnosed families hold on as genome competitors look for explanations

undiagnosed patients await answersThe CLARITY Undiagnosed Challenge is heating up. Biomedical teams from seven countries are racing to interpret DNA sequences from five families affected with undiagnosed illnesses—some with gravely ill children, some already bereaved, all desperate for answers.

In July, the 26 competing teams received whole-genome and whole-exome sequence data from each patient and close family members, along with clinical notes and patient videos. Their reports, due September 21, will be judged by an independent panel based on:

  • the methods used to analyze and interpret the sequence data
  • the ability to synthesize the information
  • clinical usefulness, care recommendations and “next steps.”
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My work, my life, my innovations: Ken Mandl, MD, MPH

Ken Mandl, MD, MPH, director of the Boston Children’s Hospital Computational Health Informatics Program, is used to seeing the world through a different lens. In high school, he began clicking photographs with his camera and developing them in a darkroom in his basement. Now, he frames subjects through the lens of epidemiology and informatics—driving discovery and care transformation through big data, apps and large-scale federated research networks.

Mandl will be one of four panelists discussing The Future of Pediatric Precision Medicine at Boston Children’s Global Pediatric Innovation Summit + Awards 2015. Read more about his life, work and innovations by hovering over the objects that surround him everyday.

Learn more about the Global Pediatric Innovation Summit + Awards 2015 and register to attend.

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The autism-GI link: Inflammatory bowel disease found more prevalent in ASD patients

brain gut connection autism IBD ASDReports from parents and a growing number of studies over the past 10 to 15 years suggest that children with autism spectrum disorder (ASD), especially more severe ASD, are prone to gastrointestinal disorders. Researchers have attributed the association to altered GI microbiota, abnormal intestinal physiology, immune alterations and other mechanisms. Some speculate that the connection results from unusual eating patterns in children with ASD.

A 2012 study led by bioinformatician Isaac Kohane, MD, PhD, of Boston Children’s Hospital and Harvard Medical School grouped autism patients according to the gene expression patterns in their blood, and one group had altered immunologic and inflammatory pathways. A more recent study went a step further, finding similar gene expression profiles in the intestines of children with ASD and those with inflammatory bowel disease (IBD).

Looking at IBD (Crohn’s and colitis) sets the bar a little higher, since IBD is uncommon and also unlikely to be caused by dietary factors (though it can certainly be aggravated by them). In a new study in the journal Inflammatory Bowel Disease, Kohane and colleagues crunched three large databases to create what they believe is the largest ASD/IBD study to date.

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Risk mitigation made easy: Apps make hospital safety proactive

A environmental health & safety hospital hot zone
A hospital ‘hot zone’

Hospitals are among the most hazardous workplaces in the U.S. In 2011, according to the Occupational Safety and Health Administration, 253,700 accidents were reported, an average of 6.8 work-related injuries for every 100 full-time employees. Rates of injuries reported to OSHA are decreasing in all industries except for hospitals, whose rates are double the average.

Could a set of digital apps help identify and reduce occupational and environmental risks in a quick and efficient manner? That is what Nick Kielbania, MS, CSP, CHMM, director of Environmental Health & Safety (EH&S) and Adrian Hudson, PhD, MCompSc, principal software architect at Boston Children’s Hospital, set out to create.

Their web-based solution, enabled for Apple and Android devices, is called the BCH Environmental Health and Safety Application Suite. Designed to aid hospital emergency response, safety and support services, the applications encompass fire, clinical, research, construction and environmental safety, with additional apps for on-call and administrative personnel.

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So, what’s your digital phenotype?

Ideally, we’re all supposed to see our doctor once a year for a checkup. It’s an opportunity to see how we’re doing from a health perspective, address any concerns or issues that we may have and catch any emerging issues before they become true problems.

But those visits are really only one-time, infrequent snapshots of health. They don’t give a full view of how we’re doing or feeling.

Now, think for a moment about how often you post something to Facebook or Twitter. Do you post anything about whether you’re feeling ill or down, or haven’t slept well? Ever share how far you ran, the route you biked or your number of steps for the day?

Every time you do, you’re creating a data point—another snapshot—about your health. Put those data points together, and what starts to emerge is a rich view of your health, much richer than one based on the records of your occasional medical visit.

As John Brownstein, PhD—director of the Computational Epidemiology Group (CEG) in Boston Children’s Hospital’s Computational Health Informatics Program and the hospital’s new Chief Innovation Officer—explains in this episode of the Harvard Medical School (HMS) Labcast (click the image above to hear it), this view has a name: your digital phenotype.

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Crisis Care: A unique suicide prevention app

teen with phone

More than 100,000 smartphone apps are currently categorized as “health apps.” There are apps for physical health—apps that log work-outs, track nutritional intake, and monitor sleeping patterns. And there are apps for mental health—apps that identify your mood, guide meditation and alleviate depression. But can an app tackle a public health problem as serious as teen suicide?

Turns out, mobile phones and suicide prevention may not be such strange bedfellows.

Elizabeth Wharff, PhD, and Kimberly O’Brien, PhD, clinician-researchers from the Department of Psychiatry at Boston Children’s Hospital, specialize in working with adolescents who struggle with suicidal thoughts. Noting that teens are already turning to their phones whenever they need something, they believe a mobile app may be the perfect platform to support them through tough times. Wharff feels that existing apps designed to help with depression and anxiety lack something crucial: parent mode.

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‘Huggable’ robot may ease kids’ hospital stress

Can a robotic talking bear have therapeutic value? “The Bear,” part of a New York Times video series called Robotica, offers a glimpse of Huggable’s potential when Beatrice Lipp, a child with a chronic medical condition, visits the hospital, nervous about what’s to come.

“We want to offer kids one more way of helping them to feel OK where they are in what’s otherwise a really stressful experience,” explains Dierdre Logan, PhD, director of Psychological Services for Pain Medicine at Boston Children’s Hospital.

Huggable, a creation of the MIT Media Lab’s Personal Robots Group and the Boston Children’s Simulator Program, comes into Beatrice’s room to chat, play games like “I Spy” and tell jokes. The session is recorded on video, and a bracelet called a Q Sensor collects Beatrice’s physiologic data–changes in skin conductance, temperature and motion that may indicate distress. Researchers at Northeastern University are analyzing these data to gauge the robot’s effect. Eventually, Huggable will be able to react to the data and respond accordingly—offering relaxation exercises and guided imagery, for example, if a child remains anxious.

Currently, Huggable is voiced by Child Life staff, but the ultimate goal is for it to work autonomously. Beatrice is part of a 90-child study comparing Huggable, an ordinary teddy bear and a tablet Huggable image.

I admit: My immediate thought on seeing Huggable was that kids would immediately see him (her?) as a fake, but the bear’s robotic nature doesn’t seem to faze them. As Logan says in the video:

I think there’s a way of connecting with kids that’s different than what grownups have to offer. They have incredible imaginations. And they can really suspend disbelief. There can be a true relationship that develops between Huggable and a patient.

See another child interacting with Huggable.


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