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Of bugs, genes, development and intestinal biology

genes intestinal developmentThe collection of bacteria and other microorganisms living in our intestines—our microbiota—is now understood to play an important role in our physiology. Recent research indicates that it helps regulate our metabolism, immune system and other biological processes, and that imbalances in the microbiota are associated with everything from inflammatory bowel disease to diabetes.

Seth Rakoff-Nahoum, MD, PhD, wants to take this understanding to a new level. An infectious disease clinical fellow at Boston Children’s Hospital, he has systematically probed how genetics interact with environment—including the microbiota—to shape intestinal biology during different stages of development.

His investigations provide interesting clues to disorders that have their origins early in life, ranging from necrotizing enterocolitis in newborns to Hirschsprung’s disease (marked by poor intestinal motility) to food allergies.

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Epilepsy surgery: When it’s not good to wait

epilepsy surgery life expectancyAbout a third of children with epilepsy do not get better with drug treatment. Many physicians are inclined to try additional drugs to control the seizures—and there are many to choose from. However, analysis of data from tens of thousands of patients suggests that if two or more well-chosen drugs have failed, and surgery is a safe option, there’s no benefit in holding off.

The decision analysis, published in the February issue of Epilepsia, found that average life expectancy was more than five years greater when eligible children had surgery rather than prolonged drug treatment. And children spent more of their lives seizure-free.

Although clinical guidelines currently do call for earlier surgery, physicians tend to use it as a last resort—even when brain-mapping studies indicate that it’s unlikely to endanger vital brain structures.

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What we’ve been reading: Week of February 16, 2015

Vector’s picks of recent pediatric healthcare, science and innovation news.

Hand of a Superhero: 3-D Printing Prosthetic Hands That Are Anything but Ordinary (The New York Times)
3D printers, it turns out, are an ideal solution for children who are missing fingers or hands. Prosthetics are rarely made for children; they tend to be too expensive, and children outgrow them far too quickly. Enter the 3D printer, which can create a D.I.Y. hand for as little as $20 to $50.

A Pancreas in a Capsule (MIT Technology Review)
Can stem cells solve the Type 1 diabetes puzzle? A handful of United States patients have had lab-grown pancreas cells, derived from human embryonic stem cells, transplanted in a human safety trial. Tech Review documents the challenges, and potential, of turning stem cells into real, functioning pancreas cells.

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The Precision Medicine Initiative: A child-centered perspective

child aiming bow & arrow Shutterstock croppedPatrice Milos, PhD, is president and CEO of Claritas Genomics, a CLIA-certified genetic diagnostic testing company spun off from Boston Children’s Hospital in 2013.

A child is sick, showing symptoms her parents cannot identify. Something is seriously wrong, but what? The family turns to Boston Children’s Hospital for answers. Yet, even with today’s medical advances, a precise diagnosis often remains elusive.

The Human Genome Project has sparked innovation over the last 14 years, and as President Obama’s Precision Medicine Initiative asserts, today genome science offers patients new hope for answers.

Initially, cancer will be the major medical focus of this initiative, as cancer is a genetic disease—a genomic alternation of the patient’s normal tissue DNA.

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What we’ve been reading: Week of February 9, 2015

Children what we've been reading Flickr thomaslife https://www.flickr.com/photos/thomaslife/4508639159
(Photo: thomaslife/Flickr)

Vector’s picks of recent pediatric healthcare, science and innovation news.

Encryption wouldn’t have stopped Anthem’s data breach (MIT Technology Review)
Hackers got their hands on the personal information and Social Security numbers of 80 million people when they broke into the network of health insurer Anthem health. But encryption alone wouldn’t have been enough to keep those data safe.

Could a wireless pacemaker let hackers take control of your heart? (Science)
Medical devices like pacemakers, insulin pumps and defibrillators are getting ever smaller and more wirelessly connected. But are those connections secure enough?

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Induced pluripotent stem cells: Choosing a reprogramming method

options for making induced pluripotent stem cells
With so many options for making iPSCs, researchers often find themselves overwhelmed.

Alexander DeVine is a research assistant in the Stem Cell Research Program at Boston Children’s Hospital.

Few discoveries have so transformed human stem cell research as have induced pluripotent stem cells (iPSCs). Like embryonic stem cells (ESCs), iPSCs possess, in principle, the potential to produce any of the cells in the human body—hence the term pluripotent. Because they can be derived by “reprogramming” easily accessible cell types (e.g., blood or skin cells) from any patient, rather than by creating and dissecting an embryo from donated sperm and eggs, iPSCs are more readily available to researchers than ESCs and better poised for clinical application.

In the seven years since Shinya Yamanaka, Jamie Thomson, and Boston Children’s Hospital’s own George Daley independently described the first methods for generating human iPSCs, these versatile cells have taken stem cell laboratories by storm. Today, they are used around the globe to study human development and to model a plethora of common and rare genetic conditions, from Parkinson’s disease to Fanconi anemia to type I diabetes. iPSCs are also starting to enter the clinic: in Japan, patients are already being recruited to a clinical trial to test the safety and efficacy of iPSC-derived therapeutics for the treatment of blindness.

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A link between cystic fibrosis and arsenic poisoning?

boys playing in arsenic-endemic area of Bangladesh
Research in Bangladesh suggests that arsenic poisoning can cause cystic-fibrosis-like illness, quite aside from the classic genetic disease. (Photo: Nadia Shobnam)
Since its causative gene was sequenced in the 1980s, cystic fibrosis (CF) has been the “textbook” genetic disease. Several thousand mutations have been identified in the CFTR protein, which regulates the flow of chloride in and out of cells. When CFTR is lost or abnormal, thick mucus builds up, impairing patients’ lungs, liver, pancreas, and digestive and reproductive systems, and making their lungs prone to opportunistic infections.

But new research could add a chapter to the textbook, pinpointing an unexpected environmental cause of CF-like illness. A study reported in the February 5 New England Journal of Medicine found that people with arsenic poisoning have high chloride levels in their sweat—the classic diagnostic sign of CF.

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Autism-like behaviors, impaired nerve tracts found in institutionalized children

Sad child-shutterstock_92102072 croppedThe sad experience of abandoned children in Romanian orphanages continues to provide stark lessons about the effects of neglect and deprivation of social and emotional interactions. The long-running Bucharest Early Intervention Project (BEIP) has been able to transfer some of these institutionalized children, selected at random, into quality foster care homes—and documented the benefits.

In a review article in the January 29 Lancet, BEIP investigator Charles A. Nelson, PhD, and medical student Anna Berens, MsC, both of Boston Children’s Hospital, make a strong case for global deinstitutionalization—as early in a child’s life as possible. Currently, it’s estimated that at least 8 million children worldwide are growing up in institutional settings.

The BEIP studies have documented a series of problems in institutionalized children, especially those who aren’t placed in foster care or are placed when they are older:

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What’s your innovation style? Lion or ant?

shutterstock_182805821From a series on researchers and innovators at Boston Children’s Hospital.

Kaifeng Liu, MD, a research fellow at Boston Children’s Hospital, takes his inspiration from ants.

“We’re often amazed by the power of large animals—whales, eagles, lions and tigers,” he says. “But these animals are genetically born with the strength to overpower other animals. Ants are small and hardworking. They work inch by inch and create a teamwork culture. Most of us are like ants. We have an average level of talent and are not able to perform like a lion. But we can work like ants and create beautiful things by working hard as part of a team—day by day, little by little.”

Liu has taken this inch-by-inch approach in a radical redesign of the conventional suturing needle: “I started to play with the surgical needle in graduate school in 1986.”

Nearly three decades later, Liu has devised an extremely short magnetic needle that transforms the current method of suturing—stitching with a needle and thread—that has been used for thousands of years.

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Advancing clinical trials for Niemann-Pick type C: Sweet news for cyclodextrin

cyclodextrin Febreze Niemann-Pick type cOlaf Bodamer, MD, PhD, is associate chief of the Division of Genetics and Genomics at Boston Children’s Hospital and is launching a multidisciplinary clinic this spring for lysosomal storage diseases—including Niemann-Pick type C, sometimes referred to as “childhood Alzheimer’s.”

Niemann-Pick disease type C (NP-C) has come a long way since its first description as an entity in the 1960s. Part of a group of rare metabolic disorders known as lysosomal storage diseases, NP-C leaves children unable to break down cholesterol and other lipid molecules. These molecules accumulate in the liver, spleen and brain, causing progressive neurologic deterioration.

I still vividly remember when I diagnosed my first patient with this devastating disease, a 3-year-old boy who had global developmental delay, restricted eye movement, loss of motor coordination and loss of speech. I spent hours with the family, explaining what was known about NP-C. When faced with the question about treatability and outcome, I could barely find the right words, but had to acknowledge that the outcome was inevitably fatal and that there was no specific treatment other than supportive measures to treat his symptoms.

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