Stories about: Uncategorized

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 MERS death rate in Saudi Arabia is double that in South Korea. Why?

map South Korea Saudi Arabia MERS
(Wikimedia Commons)

The Middle East respiratory syndrome (MERS) virus outbreak in South Korea is essentially over. (Not so in Saudi Arabia, where the virus first emerged, though—authorities there have reported a major uptick in new MERS cases in recent days.) And while the country gets back on its feet, some interesting data are starting to come out, especially about the outbreak’s case fatality rate (CFR; the percent of patients infected with the virus who died from it).

John Brownstein, PhD, and Maimuna Majumder, MPH, from Boston Children’s HealthMap team just reported in the journal Emerging Infectious Diseases that MERS’ CFR in South Korea (22 percent) is fully half that seen in Saudi Arabia (44 percent).

This infographic about Brownstein and Majumder’s MERS paper gives a snapshot of the data the analyzed, and what they think those data mean:

MERS virus South Korea Saudi Arabia infographic

Read Brownstein and Majumder’s analysis and check out Boston Children’s Hospital’s news release about the MERS paper.

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Hillary Savoie: Parents as citizen scientists

hillary-and-esme
The author with 3-year-old Esmé at their home in New York. (Tracey Buyce Photography)

In my last post I explained the genetic testing process that led to my daughter Esmé receiving results of two mutations of unknown significance. One, on the gene PCDH19, was discovered in 2012 with the GeneDx infantile epilepsy panel. The other, on SCN8A, was found with whole exome sequencing, also through GeneDx, in 2014.

When we received the SCN8A result, I was fascinated by the notion that it would have been included in our original epilepsy panel had we only waited a handful of months. In fact, in the time since Esmé’s original test in 2012, almost 20 new genes have been added to the GeneDx Infantile Epilepsy panel.

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My work, my life, my innovations: Bruce Zetter, PhD

Though Bruce Zetter, PhD, Charles Nowiszewski Professor of Cancer Biology in Boston Children’s Hospital’s Department of Surgery, has had a lifelong passion for science, he once toyed with an alternate career—as an actor. But he stuck with his love for science and pursued a career in academic medicine. Countless patients, students, business partners and mentees have benefitted from that decision.

Read on to sort through a few artifacts from Zetter’s work and life, and if you want to hear more from him, make plans to attend Boston Children’s Global Pediatric Innovation Summit + Awards 2015,  Nov. 9 + 10, where Zetter will be the emcee for the third year.

 

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Detecting Ebola within minutes: A treatment and containment game changer

Ebola

Tests for detecting Ebola in the blood can take anywhere from 12 hours to four days to yield results. But a recent study published in The Lancet reveals that a new point-of-care test can accurately determine results in mere minutes—another step toward potentially controlling the spread of Ebola.

Nira Pollock, MD, PhD, senior author of the paper and associate medical director of the Infectious Diseases Diagnostic Laboratory at Boston Children’s Hospital, along with researchers from Harvard Medical School and Partners In Health, showed that a commercially developed rapid diagnostic test (RDT), called the Corgenix ReEBOV Antigen Rapid Test kit, was as sensitive as a conventional laboratory-based method used for clinical testing during the recent outbreak in Sierra Leone.

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How our neutrophils might sabotage wound healing in diabetes

When you get a cut or a scrape, your body jumps into action, mobilizing a complicated array of cells and factors to stem bleeding, keep the wound bacteria-free and launch the healing process.

For most of us, that process is complete in a couple of weeks. But for many people with type 1 and type 2 diabetes, delayed wound healing can have permanent consequences. For example, between 15 and 25 percent of diabetes patients develop chronic foot ulcers. Those ulcers are the root cause of roughly two-thirds of lower limb amputations related to diabetes.

Why don’t these wounds close? Blame a perfect storm of diabetic complications, such as reduced blood flow, neuropathy and impaired signaling between cells. According to research by Denisa Wagner, PhD, of Boston Children’s Hospital’s Program in Cellular and Molecular Medicine, a poorly understood feature of our immune system’s neutrophils may be one more ingredient in the storm.

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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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What we’ve been reading: Week of May 25, 2015

paszczak000/Flickr https://www.flickr.com/photos/paszczak000/3311707373/
(paszczak000/Flickr)

The White House draws the line against CRISPR/Cas9-designed embryos (FierceBiotechResearch)

Responding to Chinese scientists’ attempt to use CRISPR gene editing technology to edit human embryos, the White House spoke up, saying, “altering the human germline for clinical purposes is a line that should not be crossed at this time.”

Smartphones put medical diagnostics in your hands (Chemical & Engineering News)

Could smartphones help monitor disease outbreaks? Screen patients for cancer? Diagnose HIV? With the right attachments and data, the answer could one day be yes.

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What we’ve been reading: Week of May 11, 2015

child reading
Cystic Fibrosis Drug Wins Approval of F.D.A. Advisory Panel (New York Times)
A federal advisory committee on Tuesday recommended approval of Orkambi, a drug from Vertex Pharmaceuticals that might eventually help nearly half of patients with cystic fibrosis.

Seasonal Genes (The Scientist)
Our immune systems vary with the seasons, according to a study that could help explain why certain conditions such as heart disease and rheumatoid arthritis are aggravated in winter while people tend to be healthier in the summer.

Common vitamin reduces recurrence of some skin cancers (The Washington Post)
Nicotinamide, a cheap over-the-counter vitamin, appears to reduce recurrence of some common skin cancers associated with sun exposure for people who have had them before, researchers at the University of Sydney report.

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Looking beyond allergies: Does IgE keep a wary eye out for cancer?

watchdog IgE allergies cancer

Allergies of all kinds—to food, pollen, pets, etc.—can be blamed on a kind of antibody called IgE. Cousins of the more common IgG, IgE antibodies work with immune cells called mast cells to trigger the symptoms we associate with an allergic reaction (itchy skin, runny nose, closing throat, etc.).

Edda Fiebiger, PhD, has been studying IgE and allergies for years, and has noticed a curious association in several epidemiologic studies: people with high levels of IgE in their blood (as in people with allergies) have a lower risk of certain cancers. This—and the discovery of human IgE antibodies that bind to tumor antigens—suggests that IgE may help protect the body from cancer, and has given rise to a whole new field dubbed AllergoOncology.

But how does it work? In a recent paper in Cell Reports, Fiebiger and her colleagues reveal a pathway by which IgE may keep watch for tumor cells, one that’s totally separate from its allergic role.

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