Pediatric brain tumor genomics arrives, as the need for new therapies grows

Allison was the first pediatric brain tumor patient in the world to receive a treatment targeting the BRAF mutation, originally developed to treat adults with melanoma who have the same mutation.

Precision cancer medicine – the vision of tailoring diagnosis and treatments to a tumor’s genetic susceptibilities – is now ready to impact the care of a majority of children with brain tumors. It’s led, for example, to a current clinical trial testing the anti-melanoma drug dabrafenib in a variety of brain tumors with the same BRAF mutation – including metastatic anaplastic astrocytoma and low-grade glioma.

In the largest study of its kind to date, investigators at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center genetically tested more than 200 brain tumor samples. They found that many had genetic irregularities that could guide treatment, in some cases with approved drugs or agents being evaluated in clinical trials.

The findings, reported online today by the journal Neuro-Oncology, also demonstrate that testing pediatric brain tumor tissue for genetic abnormalities is clinically feasible.

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Soft robot could aid failing hearts by mimicking healthy cardiac muscle

heart-failure

Every year, about 2,100 people receive heart transplants in the U.S., while 5.7 million suffer from heart failure. Given the scarcity of available donor hearts, clinicians and biomedical engineers from Boston Children’s Hospital and Harvard University have spent several years developing a mechanical alternative.

Their proof of concept is reported today in Science Translational Medicine: a soft robotic sleeve that is fitted around the heart, where it twists and compresses the heart’s chambers just like healthy cardiac muscle would do.

Heart failure occurs when one or both of the heart’s ventricles can no longer collect or pump blood effectively. Ventricular assist devices (VADs) are already used to sustain end-stage heart failure patients awaiting transplant, replacing the work of the ventricles through tubes that take blood out of the heart, send it through pumps or rotors and power it back into a patient’s bloodstream. But while VADs extend lives, they can cause complications.

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DNA methylation patterns linked to obesity and its complications

DNA methylation obesity
(Methylated DNA: Christoph Bock, Max Planck Institute for Informatics/Wikimedia Commons)

Why do some people seem to be prone to weight gain? Obesity has been linked to a variety of genetic changes, yet these differences don’t fully explain the variation in people’s body mass index (BMI). “Even though we’ve genetically sequenced more and more people at greater and greater breadth and depth, we haven’t completely explained who develops obesity and why,” says Michael Mendelson, MD, ScM, a pediatric cardiologist with Boston Children’s Hospital’s Preventive Cardiology Program.

Nor do prior studies explain why some overweight people develop health complications from obesity, like cholesterol problems, diabetes, hypertension and heart disease, while others don’t. Now comes strong evidence that an important factor is DNA methylation — a so-called epigenetic modification that influences whether genes are turned on or off.

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Clinical simulation training goes to the dogs

clinical simulation

Boston Children’s Hospital’s fast-growing Simulator Program, SIMPeds, creates medical scenarios for clinical teams to practice challenging procedures and situations in a risk-free environment. Now serving 27 departments and divisions at the hospital, SIMPeds’ customized simulations prepare clinicians for everything from a Code Blue to complex surgery to breaking difficult news to parents.

At the Simulation Center this week, there was one special team member being trained: Rafa, a Miniature Australian Shepherd auditioning to be part of Pawprints, Boston Children’s dog visitation program. Not all dogs are behaviorally up to the job when confronted with a hospital environment. So the SIM team created a mock intensive-care-unit patient room, fully equipped and complete with an overly enthusiastic child (overwhelming for some dogs), played by SIM engineer Katie Fitzpatrick. As Rafa interacted with the “patient,” the SIM staff set off alarms, had “doctors” and “nurses” come in and out and staged other hospital things that might distract or make a dog skittish.

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Do children with Down syndrome need modified chemo for leukemia? No, says study

leukemia down syndrome acute lymphoblastic leukemia

Clinicians have long known that children with Down syndrome carry an elevated risk of developing acute lymphoblastic leukemia (ALL), the most common pediatric cancer. Research consistently shows that children with Down syndrome are more likely to suffer complications from chemotherapy. At the same time, some studies have suggested that children with Down syndrome and ALL may have a higher chance of relapsing.

What to do with this knowledge has been a source of controversy. Should patients with ALL and Down syndrome receive treatment modified to minimize toxicity from chemotherapy? Or should they be given the same treatment as other children with ALL to minimize the chance for relapse? Recent study results from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center suggest that full-dose chemo is preferable.

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Infant behavior, dyslexia and war orphans: A portrait of Peter Wolff, MD

Peter Wolff MD
Peter Wolff c. 1977 (Ed Fitzgerald/Boston Globe)

Peter Wolff, MD, recently retired from Boston Children’s Hospital after more than 60 years in service to clinical psychiatry, behavioral science research and ethical oversight of human subject research.

When he started as a psychiatrist at Boston Children’s Hospital in 1956, Peter H. Wolff, MD, was seeking a deeper understanding of infant behavior. At a time when psychoanalysis was the framework for understanding the infant psyche, Wolff applied scientific methods used to study animal behavior — carefully observing an animal in its natural environment and seeking to discern patterns. His approach would revolutionize our understanding of infancy.

“We knew a great deal about a stickleback fish, the graylag goose by just watching what they do in the field — field observations — but nobody had ever done that with humans,” Wolff shared in an interview in 2009, “and it seemed to me a logical thing to try to do that.”

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Zinc chelation: A better way to regenerate the optic nerve?

optic nerve zinc chelation

For more than two decades, researchers have tried to regenerate the injured optic nerve using different growth factors and/or agents that overcome natural growth inhibition. They’ve had partial success, sometimes even restoring rudimentary elements of vision in mouse models.

But at best, these methods get only about 1 percent of the injured nerve fibers to regenerate and reconnect the retina to the brain. That’s because most of the damaged cells, known as retinal ganglion cells (RGCs), eventually die, says Larry Benowitz, PhD, of the F.M. Kirby Neurobiology Center at Boston Children’s Hospital.

Benowitz and colleagues now show a surprising new approach that gets RGCs to live longer and regenerate robustly: using chelating agents to bind up zinc that’s released as a result of the injury.

These studies, too, were done in mice. If the findings hold up in human studies, they could spell hope for people with optic nerve injury due to trauma, glaucoma or other causes, and possibly even spinal cord injury.

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Science to care: Q&A with Boston Children’s Hospital’s new Chief Scientific Officer

David Williams, MD
David Williams, MD

When Boston Children’s Hospital decided to hire its first chief scientific officer (CSO) in eight years, the institution sought an individual who could spotlight the hospital’s robust scientific enterprise and effectively connect it to clinical medicine and industry. David Williams, MD, president of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and director of clinical and translational research at Boston Children’s, was the ideal choice.

An award-winning researcher, Williams trained in the clinic but also pursued basic science, developing techniques for introducing genes into mouse and human blood cells. He focused on blood stem cell biology, leukemia and gene therapy to correct genetic blood disorders, becoming a 16-year Howard Hughes Medical Institute Investigator, a Member of the National Academy of Medicine and a Fellow of the American Association for the Advancement of Science. He has secured multiple patents for techniques still in use today.

Williams spoke about his vision as CSO to align basic research and clinical care at Boston Children’s and the challenges ahead.

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2017 predictions for biomedicine

2017 predictions for biomedicine

David Williams, MD, is Boston Children’s Hospital’s newly appointed Chief Scientific Officer. He is also president of the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and director of Clinical and Translational Research at Boston Children’s. Vector connected with him to get his forecast on where biomedical research and therapeutic development will go in the year ahead.

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7 digital health predictions for 2017

digital health predictions

What does 2017 have in store for digital healthcare innovations? Vector connected with clinical, digital health and business experts from the Innovation & Digital Health Accelerator (IDHA) at Boston Children’s Hospital and asked for their predictions.

Overall? “Expect to see a reshaping of the patient journey, more patient-centric care and more clinically impactful technology in 2017,” says John Brownstein, PhD, Chief Innovation Officer at the hospital. “We’re also looking forward to digital health offerings being met by industry-wide adoption as patient-centric care is provided and reimbursed.”

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