Stories about: Personalized medicine

Surgical 3-D printing: 300 prints, 16 specialties and counting

3-D printing is rapidly becoming a part of surgical planning. Since July 2013, Boston Children’s Hospital’s 3-D printing service, part of the Simulator Program, has received about 200 requests from 16 departments around the hospital. It’s generated a total of about 300 prints, most of them replicating parts of the body to be operated on.

Most prints take between 4 and 28 hours to produce. The largest to date—an entire malformed rib cage—took 105 hours and 35 minutes to create and weighed 8.9 pounds. The smallest—a tiny tangle of blood vessels in the brain—took 4 hours and 21 minutes and weighed 1.34 ounces. Here is sampling of what’s been coming off the production line.

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My work, my life, my inspirations: Katherine Janeway, MD

“It’s all about the patients,” says Katherine Janeway, MD, when asked about the motivations behind her efforts to bring precision medicine to pediatric oncology. But it’s more than that; the drive to combine science and care is in her blood. A solid tumor specialist and cancer genomics researcher at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Janeway is the sixth generation of her family to choose a scientific or medical path—not just as a career, but also as a form of service.

Janeway will bring her patient-centered perspective to the Cancer Genomics + Care panel at Boston Children’s Global Pediatric Innovation Summit + Awards 2015. Read more about her life, work and innovations—and inspirations—by hovering over the objects that surround her everyday.

Learn more about Boston Children’s summit and register to attend.

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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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Gene therapy restores hearing in deaf mice

A closeup of the sensory hair bundles in the cochlea (inverted v's), each containing 50 to 100 microvilli tipped with TMC proteins. Cell bodies are below the bundles. (Gwenaelle S. Geleoc & Artur A. Indzhykulian)
The inverted V’s above are sensory hair bundles in the ear, each containing 50 to 100 microvilli tipped with TMC proteins. Gene therapy restores hearing by providing working copies of those proteins. (Gwenaelle Geleoc & Artur Indzhykulian)

More than 70 different genes are known to cause deafness when mutated. Jeffrey Holt, PhD, envisions a day when patients with hearing loss have their genome sequenced and their hearing restored by gene therapy. A proof-of-principle study published today by the journal Science Translational Medicine takes a clear step in that direction, restoring hearing in deaf mice.

“Our gene therapy protocol is not yet ready for clinical trials—we need to tweak it a bit more—but in the not-too-distant future we think it could be developed for therapeutic use in humans,” says Holt, a scientist in the F.M. Kirby Neurobiology Center at Boston Children’s Hospital and an associate professor of Otolaryngology at Harvard Medical School.

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Power to the people: Citizen science meets precision medicine for rare disease

At this recent GoldLab Symposium presentation in Colorado, parent Matt Might shows how it’s done.

People credit rapid next-generation gene sequencing for the increased pace of medical discovery. But patients and their families—especially those with rare or undiagnosed conditions—are emerging as the true engines of precision medicine. Racing against the clock to save their children, parents are building databanks, connecting scientific dots and fueling therapeutic advances that could otherwise take a decade or more to happen.

“There’s a culture shift,” said Isaac Kohane, MD, PhD, chair of Harvard Medical School’s Department of Biomedical Informatics (DBMI), which hosted a conference titled Precision Medicine 2015: Patient Driven in late June. “A culture shift where patients feel empowered morally and intellectually to lead in precision medicine research and delivery.”

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Gene therapy to germline editing: Promises, challenges, ethics

A report this April rocked the scientific world: scientists in China reported editing the genomes of human embryos using CRISPR/Cas9 technology. It was a limited success: of 86 embryos injected with CRISPR/Cas9, only 71 survived and only 4 had their target gene successfully edited. The edits didn’t take in every cell, creating a mosaic pattern, and worse, unwanted DNA mutations were introduced.

“Their study should give pause to any practitioner who thinks the technology is ready for testing to eradicate disease genes during [in vitro fertilization],” George Q. Daley, MD, PhD, director of the Stem Cell Transplantation Program at Boston Children’s Hospital, told The New York Times. “This is an unsafe procedure and should not be practiced at this time, and perhaps never.”

As Daley detailed last week in his excellent presentation at Harvard Medical School’s Talks@12 series, the report reignited an ethical debate around tampering with life that’s hummed around genetic and stem cell research for decades. What the Chinese report adds is the theoretical capability of not just changing your genetic makeup, but changing the DNA you pass on to your children.

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Clinical drug trial seeks to avoid liver transplant for LAL deficiency

(Image courtesy Ed Neilan)

neilan_edward_dsc9139Second in a two-part series on metabolic liver disease. Read part 1.

According to the American Liver Foundation, about 1 in 10 Americans have some form of liver disease. One rare, under-recognized disorder, lysosomal acid lipase (LAL) deficiency, can fly under the radar until it becomes life-threatening, often requiring a liver transplant. LAL deficiency currently has no specific treatment, but that may change thanks to combined expertise in genetics, metabolism and hepatology.

In recent years, Boston Children’s Hospital’s Director of Hepatology, Maureen Jonas, MD, and the Metabolism Program’s Edward Neilan, MD, PhD, diagnosed three children with LAL deficiency. All three are now enrolled in the first international LAL deficiency clinical trial, with Neilan serving as Boston Children’s principal investigator.

“LAL deficiency is currently under-diagnosed,” Neilan says. “We think the disease is more common than doctors have thought and now, with a treatment in trial, it is of greater importance to identify those patients so they may have better outcomes.”

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Transplant surgeon seeks to avoid transplants

First in a two-part series on metabolic liver disease. Read part 2.

Khashayar Vakili, MDIn the clinical world, Boston Children’s Hospital surgeon Khashayar Vakili, MD, specializes in liver, kidney and intestinal transplant surgeries, while in the lab he is doing work which, for some patients, could eliminate the need for a transplant surgeon altogether.

Vakili has been working at Boston Children’s for six years. During his transplant surgery fellowship, he spent several months learning about pediatric liver transplantation from Heung Bae Kim, MD, director of the Boston Children’s Pediatric Transplant Center, which prompted his interest in the field.

“When the opportunity to join the transplant team presented itself, I did not hesitate to accept,” he says.

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Bioinformatics, big data and putting the ‘count’ in accountable care

Tally_marks_counting_visitors-Wikimedia CommonsWhen you go into Netflix to choose a movie or Amazon to buy a book, they’re ready with proactive suggestions for your next purchase, based on your past history. Isaac Kohane, MD, PhD, would like to see something similar happening in medicine, where today, patients often find themselves repeating their medical history “again and again to every provider,” as Kohane recently told Harvard Medicine.

“Medicine as a whole is a knowledge-processing business that increasingly is taking large amounts of data and then, in theory, bringing that information to the point of care so that doctor and patient have a maximally informed visit,” says Kohane, chair of informatics at Boston Children’s Hospital and co-director of the Center for Biomedical Informatics at Harvard Medical School.

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Targeting leukemia with a clinical trial of CAR T-cell therapy

relapsed leukemia targeted therapy CAR T-cell immunotherapy

One of the immune system’s basic jobs is to tell “self” from “non-self.” Our cells carry markers that the immune system uses to recognize them as being part of us. Cells that don’t carry those markers—like bacteria and other pathogens—therefore don’t belong.

Cancer cells, however, fall into a gray area. They’re non-self, yet they also bear markers that connote self-ness—one of the reasons the immune system has a hard time “seeing” and reacting to cancer.

Can we focus the immune system’s spotlight on cancer cells? The provisional answer is yes. Research on cancer immunotherapy—treatments that spur an immune response against cancer cells—has boomed in recent years. (The journal Science recognized cancer immunotherapy as its Breakthrough of the Year in 2013.)

And one of the more recent methods—called chimeric antigen receptor (CAR) T-cell therapy—is now in a clinical trial for relapsed or treatment-resistant B-cell acute lymphoblastic leukemia (ALL) at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center.

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