Stories about: Diagnostics

News Notes: Headlines in science and innovation

An occasional roundup of news items Vector finds noteworthy.

Zika’s surface in stunning detail; mosquito tactics

Zika virus
(Purdue University image/courtesy of Kuhn and Rossmann research groups)

We haven’t curbed the Zika epidemic yet. But cryo-electron microscopy — a newer, faster alternative to X-ray crystallography — at least reveals the structure of the virus, which has been linked to microcephaly (though not yet definitively). The anatomy of the virus’s projections gives clues to how the virus is able to attach to and infect cells, and could provide toeholds for developing antiviral treatments and vaccines. Read coverage in the Washington Post and see the full paper in Science.

Meanwhile, as The New York Times reports, scientists are coming together in an effort to control Zika by genetically manipulating the mosquito that spreads it, Aedes aegypti.

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Ten child health innovations headed to SXSWi

Impact Pediatric Health child health innovation
(U.S. Army/Lori Yerden via Flickr)

Innovation in pediatrics is alive and well. On March 14, at the South by Southwest Interactive (SXSWi) festival in Austin, Tex., Impact Pediatric Health will run its second annual pitch competition for digital health and medical device startups. Based on the ten child health innovations to be pitched, it promises to be as inspiring as last year’s event.

Judges include representatives from the four founding hospitals — Boston Children’s Hospital, Cincinnati Children’s Hospital, Texas Children’s Hospital and Children’s Hospital of Philadelphia — and from Sesame Workshop, whose recently announced Sesame Ventures plans to support companies that “help kids grow smarter, stronger and kinder.”

John Brownstein, PhD, chief innovation officer at Boston Children’s and one of the judges on the panel, agrees with that mission. “When it comes to innovation, pediatrics is often a second thought or gets left out altogether,” he says. “I’m extremely impressed with the landscape this year and the breadth of startup ideas.”

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Personalized medicine for kidney stones

Kidney stones

One in 10 people in their lifetime will have a kidney stone — a small, hard deposit of mineral and acid salts that can obstruct the drainage of urine, cause intense pain and, if not treated properly, lead to long-term kidney issues. Kidney stones are relatively uncommon in children, but the number of cases over the past two decades has risen.

The treatment for kidney stones has remained the same for decades — increased fluid intake, limited sodium intake, diuretics and potassium citrate therapy. Lifestyle factors are typically blamed for kidney stones, yet twin studies suggest a genetic component. In fact, new research supports pursuing a genetic diagnosis for this common condition, especially in kids.

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Nephrotic syndrome: Unexpected insights from genomic sequencing

nephrotic syndrome - SNRS -a glomerulus
Magnified views of a glomerulus from a rat kidney. (Source for all images: Braun DA; et al. Nat Genet 2015 doi:10.1038/ng.3512)

About 1 in 5 cases of the kidney-destroying condition nephrotic syndrome don’t respond to steroid treatment. They are a leading cause of end-stage kidney failure in children and young adults, who are quickly forced to go on dialysis or wait for a kidney transplant.

Thanks in large part to the lab of Friedhelm Hildebrandt, MD, chief of the Division of Nephrology at Boston Children’s Hospital, more is becoming known about this severe condition. Mutations in more than 30 genes have been implicated, all causing dysfunction of glomeruli, the kidney’s filtering units, specifically in cells known as podocytes. Test panels are now clinically available. Yet, in 70 percent of patients, the causative gene is still unknown.

A new study by Hildebrandt and colleagues in this week’s Nature Genetics pinpoints three new, completely unexpected genes, revealing the power of whole-genome sequencing and potentially opening a new treatment route for at least some steroid-resistant cases.

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The cell that caused melanoma: Cancer’s surprise origins, caught in action

It’s long been a mystery why some of our cells can have mutations associated with cancer, yet are not truly cancerous. Now researchers have, for the first time, watched a cancer spread from a single cell in a live animal, and found a critical step that turns a merely cancer-prone cell into a malignant one.

Their work, published today in Science, offers up a new set of therapeutic targets and could even help revive a theory first floated in the 1950s known as “field cancerization.”

“We found that the beginning of cancer occurs after activation of an oncogene or loss of a tumor suppressor, and involves a change that takes a single cell back to a stem cell state,” says Charles Kaufman, MD, PhD, a postdoctoral fellow in the Zon Laboratory at Boston Children’s Hospital and the paper’s first author.

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How whole-genome sequencing solved my son’s genetic mystery

Titin gene centronuclear myopathy

A longer version of this article was published in the journal Narrative Inquiry in Bioethics as part of a special issue on patients’ experiences with genetic testing.

“Negative.” “Normal.” “Fails to confirm the diagnosis of . . .” “Etiology of the patient’s disease phenotype remains unknown.”

These are words I heard repeatedly in the first 11 years of my son’s life. Even as new genes for my son’s rare muscle disorder were discovered around the world, negative or “normal” genetic test results were reported back to us 13 times.

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Interpreting genomes in undiagnosed patients: Our CLARITY Challenge experience

CLARITY Undiagnosed challenge winner Peter WhitePeter White, PhD, Assistant Professor of Pediatrics and Director of the Biomedical Genomics Core at Nationwide Children’s Hospital, led the winning team in CLARITY Undiagnosed, an international challenge that interpreted genomic data from five families with undiagnosed conditions. The team also took part in CLARITY’s first challenge in 2012, receiving special mention. Here, White describes the team’s approach to these “toughest of the tough” patients.

The CLARITY Undiagnosed challenge was markedly harder than the first CLARITY challenge. This time around, we were given whole-genome sequence datasets for five families and asked to produce clinically useful results through improved interpretation and reporting. It turned out to be a fantastic learning experience for all of us, and we will be using the collaborative approach we developed to solve genomics challenges in our own patients.

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9 science and innovation predictions for 2016

science and innovation predictions for 2016
Everett Collection/Shutterstock

What does 2016 have in store in the realm of science and clinical innovation? Vector asked clinical, digital and business leaders from around Boston Children’s Hospital to offer their forecasts.

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In case you missed it: A look back at 2015

Dog looking back-cropped-Kim Britten-shutterstock_306257615It’s been another exciting year in science and innovation at Boston Children’s Hospital. Read on for a few Vector and audience favorites in science and technology.

 

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Lung transplant evaluation: How the rules may differ in children

LungsMost adult transplant centers require patients to walk a set distance in under six minutes to remain a good candidate for lung transplant. The thought is that if patients cannot meet this minimal threshold, then their chances of being able to rehabilitate after transplant are diminished. In pediatrics, this is also important. But Dawn Freiberger, RN, MSN, Boston Children’s Hospital’s Lung Transplant coordinator, says there are other factors that have to be considered.

“The walk test is just one piece of the pie,” says Freiberger.

In 2013, Freiberger co-authored a study, Pretransplant six-minute walk test predicts peri- and post-operative outcomes after pediatric lung transplantation, which became the precursor to a multicenter study with the Children’s Hospital of Philadelphia and St. Louis Children’s Hospital. The new study looks at how a child’s pre-transplant physical condition affects post-transplant outcomes.

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