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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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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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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


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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NIH funding snapshots: Your tax dollars at work

2014NIHFundingFunding drives biomedical research, and research drives treatment innovation. Access to funds, particularly National Institute of Health (NIH) awards, is critical to move research forward. The 21st Century Cures Act, which passed the U.S. House on July 10, could give the NIH $8.75 billion more in new grants to disperse over the next five years, the largest increase since the Recovery Act of 2009.

How would those funds be used? Can research find a better way to treat patients? Prevent disease? Disseminate advances in medicine?

In 2014, Boston Children’s led the U.S. in NIH awards. Here’s a look at how a few research teams are leveraging NIH funding to improve care for both children and adults.

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Supercharged marrow transplant: Zebrafish reveal drugs that aid engraftment

Zebrafish stem cell engraftment bone marrow
(Jonathan Henninger and Vera Binder)

Bone marrow transplantation, a.k.a. stem cell transplantation, can offer a cure for certain cancers, blood disorders, immune deficiencies and even metabolic disorders. But it’s a highly toxic procedure, especially when a closely matched marrow donor can’t be found. Using stem cells from umbilical cord blood banked after childbirth could open up many more matching possibilities, making transplantation safer.

Except for one problem. “Ninety percent of cord blood units can’t be used because they’re too small,” says Leonard Zon, MD, who directs the Stem Cell Research Program at Boston Children’s.

But what if the blood stem cells in those units could be supercharged to engraft more efficiently in the bone marrow and grow their numbers faster? That’s been the quest of the Zon lab for the past seven years, in partnership with a see-through zebrafish called Casper.

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