Stories about: personalized medicine

3D printing puts patients in surgeons’ hands. Literally.

3D printed plastic model of a patient's skull John Meara craniofacial anomaliesA picture may be worth a thousand words, but there’s something about holding an object in your hands that’s worth so much more. I realized this when John Meara, MD, DMD, handed me the skull of one of his patients.

I turned it over in my hands while Meara, Boston Children’s Hospital’s plastic surgeon-in-chief, pointed out features like the cranium’s asymmetric shape and the face’s malformed left orbit.

Mind you, it wasn’t actually Meara’s patient’s skull in my hands. In reality, I was holding a high-resolution, plastic 3D model printed from the patient’s CT scans.

The printer that made that model—and several other models I saw in the last month—is the centerpiece of a new in-house 3D printing service being built by Peter Weinstock, MD, PhD, and Boston Children’s Simulator Program.

3D printing technology has exploded in the last few years, to the point where anyone can buy a 3D printer like the MakerBot for a couple of thousand dollars or order 3D printed products from services like Shapeways. Adobe even recently added 3D printing support to Photoshop.

And 3D printing is already making a mark on medicine.

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Pharmacogenomics: One size doesn’t fit all

Clothing hangers-sizes-Shutterstock croppedIn 2009, The New England Journal of Medicine reported the case of an otherwise healthy 2-year-old boy in Canada who died after surgery. He had received a codeine dose in the recommended range, but an autopsy revealed that morphine (a product of codeine metabolism) had built up to toxic levels in his blood and likely depressed his breathing. Genetic profiling revealed him to be an “ultrarapid codeine metabolizer,” due to a genetic variation in an enzyme known as CYP2D6, part of the cytochrome P-450 family.

While codeine is no longer used at Boston Children’s Hospital, it’s this kind of genetic profiling that Shannon Manzi, PharmD, would someday like to offer to all patients—before a drug is prescribed.

Not all people respond the same way to drugs. The results of randomized clinical trials—considered the gold standard for drug testing—often produce a dose range that worked for the majority of the patients in the study. They don’t take people’s individuality into account, and that individuality can dramatically affect drug efficacy and toxicity.

Adverse reactions are more common than you might think.

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From flu to fungi: Different asthmas, different pathways

Understanding asthma's different pathways may allow individualized treatments.
Understanding asthma’s different pathways may allow individualized treatments.

Existing asthma drugs don’t work well in many people, and a major reason is becoming clear: Asthma isn’t just one disease, but a collection of diseases that cause airways to constrict and become twitchy. Different types of asthma have different triggers that exacerbate the disease, each setting off a different part of the immune system, and each needing a different pharmacologic approach.

In this week’s Nature Medicine, a team led by Dale Umetsu, MD, PhD, and Lee Albacker, PhD, of Boston Children’s Hospital’s Division of Immunology and Harvard Medical School, describe a type of asthma triggered by the fungus Aspergillus fumigatus, a common mold.

Existing asthma control drugs, like inhaled corticosteroids, target allergic asthma, via pathways involving adaptive immunity and a group of T cells, known as Th2 cells. However, the new work, in live mice and in human cell cultures, suggests that Aspergillus triggers asthma through a faster process involving the innate immune system. In both mice and humans, Aspergillus activates a different set of T cells, known as natural killer T cells (NKT cells).

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Personal genomics takes flight as hospitals join forces with industry

A new spinoff business will make large-scale genomic diagnostics a reality in medical practice (Image: Rosendahl)

Genomic sequencing and molecular diagnostics are becoming a global business. At the recent American Society of Human Genetics meeting, dazzling technologies for reading genetic code were on display—promising faster, cheaper, sleeker.

Nevertheless, it’s become clear that the ability to determine someone’s DNA or RNA sequence doesn’t automatically translate into useful diagnostics or even actionable information. In fact, the findings are often confusing and hard to interpret, even by physicians.

That’s where academic-industry partnerships can flourish—tapping the deep expertise of medical research centers to bring clinical meaning to sequencing findings. Yesterday, Boston Children’s Hospital and Life Technologies Corp. announced a new venture with a great list of ingredients: fast, accurate, scalable sequencing technology—Life’s Ion Proton® Sequencer—but also research and clinical experience in rare and genetic diseases, bioinformatics expertise to handle the big data, and the medical and counseling expertise to create meaning from the results.

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Forcing lymphoma cells into withdrawal, one subtype at a time

Could one of these molecules break the back of a treatment-resistant kind of lymphoma?

It used to be that there were two kinds of lymphoma, a cancer of the white blood cells: Hodgkin’s lymphoma, and everything else (aka non-Hodgkin’s lymphoma). Now doctors recognize more than 20 different types of non-Hodgkin’s lymphoma, based on cell type, genetic/genomic features, what the cells look like under a microscope, where the tumors form, etc.

With greater knowledge of what makes a lymphoma a lymphoma has also come the recognition that each type, subtype and sub-subtype responds to the same treatment differently—or not at all.

That’s led to a more targeted approach to discovering and developing anti-lymphoma drugs, based on the unique molecular features of a particular subtype. A team of researchers including Hao Wu, PhD, of the Program in Cellular and Molecular Medicine at Boston Children’s Hospital, is getting good traction focusing on one especially hard-to-treat lymphoma.

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Not all brain tumors are made the same, and that’s important

medulloblastoma
(saeru/Flickr)

When you look at an apple, no matter what variety, on the surface you can be pretty sure it’s actually an apple. From there, you can make lots of assumptions about it, like how it will taste when you bite into it and what will happen if you plant the seeds in your yard.

With cancer, we can’t make those kinds of assumptions. While two tumors from the same location in two patients may look the same, doctors and researchers have come to recognize that their behavior and the mutations driving them can be radically different, as can their response to therapy.

With that recognition, physician/scientists like Scott Pomeroy, MD, PhD, the neurologist-in-chief at Boston Children’s Hospital, are taking a deeper look at the tumors they commonly see and asking whether what on the surface looks like one kind of tumor might actually be something completely different. Pomeroy in particular has applied this view to one of the biggest questions in pediatric cancer: Why do medulloblastomas, the most common malignant childhood brain tumor, behave so differently from child to child?

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Harnessing the power of emotional engagement

IDEO's Rodrigo Martinez believes we all have the power to improve people's lives by gleaning small insights from everyday interactions

“What is the purpose of healthcare?” To a room full of doctors, nurses and other healthcare experts at Boston Children’s Hospital, it was a startling question—justifying why they save lives was not part of their everyday experience.

“It may seem like a crazy question but it’s important to ask why we do what we do,” said Rodrigo Martinez, life sciences chief strategist from the international design firm IDEO, during a monthly Innovator’s Forum at the hospital. “Is it to care? Is it for us to feel better? Is it for us to have less emotional trauma in our lives?”

One audience member admitted that a lot of his time in the Emergency Department is spent reporting what he does. “During an eight hour shift, I may spend a significant amount of time recording all the things I’ve done to help a patient, but that’s time I’m not with the patient.” Martinez nodded.

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Challenging the dogma on deadly brain stem gliomas

Nestled in the pons (the red area above), the area that controls breathing, DIPG tumors have been impossible to biopsy and analyze for therapeutic insights. Until now. (MEXT Integrated Database Project/Wikimedia Commons)

Brain tumors can be very difficult to treat, but at least we know what to do about them. For years, a mix of surgery, radiation and chemotherapy has been used to treat brain tumors like medulloblastoma.

These treatments are fairly successful, but for a rare, almost always fatal tumor called diffuse intrinsic pontine glioma (DIPG), we haven’t had any success—in fact, we haven’t known where to start.

The problem has to do with where DIPGs are located: nestled among the nerves in a portion of the brain stem, the pons, that controls critical functions like our breathing, blood pressure and heart rate.

“For 40 years, we lacked the neurosurgical techniques to biopsy DIPGs safely,” say Mark Kieran, MD, PhD, director of the Brain Tumor Program at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC). “In fact, one of the first lessons every oncologist is taught still is, ‘Don’t biopsy brain stem gliomas.’ The dogma was that the risk of severe or fatal damage was too great.” And because we couldn’t biopsy them, we couldn’t study them to learn what makes them tick.”

A lot can change in four decades. Techniques for operating on the brain have advanced considerably, as have the tools for probing tumors at the molecular level. So, looking to turn the dogma about DIPGs on its head, Kieran has launched a clinical trial that aims to use advanced surgical and diagnostic tools to target and individualize DIPG treatment.

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Celebrating Innovation Day: In pictures

Children's Hospital Boston's first Innovation Day Feb 14, 2012

On Tuesday, Children’s Hospital Boston featured its first Innovation Day.  Organized by the Hospital’s Innovation Acceleration Program, which seeks to promote grass roots innovation within the hospital, the TEDMED style conference featured talks by 17 of the Hospital’s clinicians. Our Chief Innovation Officer Naomi Fried welcomed a packed house, which included attendees from across the country. Here we’re featuring some of the technologies that were revealed on Tuesday and how they’re changing the face of pediatric medicine:

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Personalized medicine in asthma: Finding the right targets

Asthma triggered by the influenza virus works through pathways not targeted by existing drugs. (Photo: Cynthia Goldsmith)

A case of the flu almost always exacerbates asthma, and often spells hospitalization for asthmatic children. But why is flu so dangerous, and why are flu-induced exacerbations so hard to control?

New research reveals that these attacks arise via a previously unrecognized physiologic pathway that appears to bypass existing asthma drugs.

“Virtually everyone who comes into the hospital with asthma has a viral infection, because we just can’t treat it well,” says Dale Umetsu, the study’s senior investigator and an immunologist at Children’s Hospital Boston. “If we could find better therapies that specifically target this pathway, we might be able to help these patients.”

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