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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Progress in the treatment of childhood leukemia

Although treatments for childhood cancer patients are improving, cancer remains the leading cause of death by disease in children. Doctors and researchers are also focused on decreasing the toxicity of these treatments, which can have side effects years after a child finishes treatment.

“The war against childhood cancer is hardly over,” says Kimberly Stegmaier, MD, a pediatric oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “We need to do better.”

Stegmaier, who focuses her research on identifying new drug targets and new drugs for childhood leukemiaEwing sarcoma, and neuroblastoma, recently discussed advances in childhood cancer treatment in a Science, Innovation, and Discovery Talk (SID Talk) at Dana-Farber. During the TED Talk-style presentation, Stegmaier explained some of her research in the treatment of sub-microscopic acute lymphoblastic leukemia (ALL) as well as genetic targets in childhood cancers.

“What you can do in an environment where you have chemists, biologists, and clinicians adjacent and working collaboratively is very powerful,” says Stegmaier. “That’s why I’m here today—we need to cure 100 percent of kids, and we can’t do this alone.”

This story originally ran on Dana-Farber Cancer Institute’s Insight blog.

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Hillary Savoie: Parents as citizen scientists

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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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So far, so good for gene therapy patient Emir Seyrek

Emir Seyrek gene therapy Wiskott-Aldrich ThrivingRemember Emir Seyrek, the Turkish boy who last year was the first patient in gene therapy trial for a genetic immunodeficiency called Wiskott-Aldrich Syndrome? Emir traveled back to the U.S. earlier this month for an annual follow-up visit with his care team at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. The news was quite good.

“Emir is the star of the trial,” Sung-Yun Pai, MD—a Dana-Farber/Boston Children’s gene therapy and immunodeficiency transplant specialist and lead (along with David Williams, MD, and Luigi Notarangelo, MD) of the U.S. arm of the trial—tells our sister blog, Thriving. “He has the highest platelet count of all of the children who have gone through gene therapy with this vector so far. His immune function is excellent, and we have no worries whatsoever from a bleeding standpoint. He’s perfectly safe to play like a normal child.”

Learn more about Emir’s progress on Thriving.

 

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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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Hold me, turn me: 3D printed models help doctors rehearse tricky cerebrovascular procedures

Vein of Galen-3D-20140418_Orbach-croppedFour children with life-threatening malformations of blood vessels in the brain appear to be the first to benefit from 3D printing of their anatomy before undergoing high-risk corrective procedures.

The children, ranging from 2 months to 16 years old, all posed particular treatment challenges: cerebrovascular disease often entails complex tangles of vessels in sensitive brain areas.

“These children had unique anatomy with deep vessels that were very tricky to operate on,” says Boston Children’s neurosurgeon Edward Smith, MD, senior author of the paper and co-director of the hospital’s Cerebrovascular Surgery and Interventions Center. “The 3D-printed models allowed us to rehearse the cases beforehand and reduce operative risk as much as we could. You can physically hold the 3D models, view them from different angles, practice the operation with real instruments and get tactile feedback.”

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When your child isn’t just rare, but probably one of a kind

Savoie at home with 4-year-old Esmé in New York.
Savoie at home with 4-year-old Esmé in New York.

Hillary Savoie, PhD, founder and director of The Cute Syndrome Foundation, is author of Around And Into The Unknown, chronicling her family’s journey to find a diagnosis for Esmé, and Whoosh, about coming to terms with Esmé’s early medical complications.

I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.

But my daughter is also unusual in a more scientific way: in her genes. 

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Building a better hospital…with cardboard

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It’s 1 a.m. on a Wednesday. A two-year-old boy involved in a rollover automobile accident is brought into the emergency department at Boston Children’s Hospital. A scan shows fluid in his abdomen. He is becoming progressively unstable, his blood pressure plummeting despite blood transfusions. A decision is made to bring him to the operating room (OR), where a surgical team performs an exploratory laparotomy for a liver laceration and massive bleeding.

This is a test. It is one of the many tests of Boston Children’s Simulator Program (SIMPeds).

On July 13, 14 and 15, the entire seventh floor of the nearby Longwood Center became a theater, rooms with walls of cardboard became the stage, and hospital staff members became the actors. It was just one of many simulations—complete with cardboard transfusion machines, heart-lung machines and more—intended to help architects design ORs, procedure rooms, recovery rooms and other clinical spaces. These spaces will eventually make up a new 11-story, 445,000-square-foot hospital building. During the week, similar exercises also took place for a planned facility in Waltham.

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Solving puzzles with Cigall Kadoch

Cigali Kadoch-Rubiks cube-croppedGrowing up in the San Francisco area, Cigall Kadoch, PhD, had a passion for puzzles. The daughter of a Moroccan-born, Israeli-raised father and a mother from Michigan who together developed an interior design business, Kadoch excelled in school and pretty much everything else. Above all, she loved to solve brain-teasers.

For Kadoch, the Rubik’s cube represents a love of puzzles, as well as the structure of the protein complexes she studies in her research at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dana-Farber Chief of Staff Stephen Sallan, MD, describes her as “addicted to discovery.”

In high school, however, Kadoch came up against a problem that defied solution. Breast cancer took the life of a beloved family caretaker who had nurtured her interests in science and nature. She knew little about cancer except that it took lives far too early.

“I was deeply saddened and very frustrated at my lack of understanding of what had happened,” recalls Kadoch. “I thought to myself, cancer is a puzzle that isn’t solved, let alone even well-defined, and I want to try. As naïve a statement as that was, it was a defining moment—one which I never could have predicted would actually shape my life’s efforts.”

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