Stories about: Diagnostics

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.

Read Full Story | Leave a Comment

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.

Read Full Story | Leave a Comment

Interpreting genomes in undiagnosed patients: Our CLARITY Challenge experience

Peter White BGC Director High ResPeter 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.

Read Full Story | Leave a Comment

9 science and innovation predictions for 2016

Everett Collection/Shutterstock
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.

Read Full Story | Leave a Comment

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.

 

Read Full Story | Leave a Comment

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.

Read Full Story | Leave a Comment

For dyslexia, writing is often on the wall from birth

Writing on the wall-shutterstock_345548735-croppedSome 5 to 17 percent of all children have developmental dyslexia, or unexplained reading difficulty. When a parent has dyslexia, the odds jump to 50 percent. Typically, though, dyslexia isn’t diagnosed until the end of second grade or as late as third grade — when interventions are less effective and self-esteem has already suffered.

“It’s a diagnosis that requires failure,” says Nadine Gaab, PhD, an investigator in Boston Children’s Hospital’s Laboratories of Cognitive Neuroscience.

But a new study led by Gaab and lab members Nicolas Langer, PhD, and Barbara Peysakhovich finds that the writing is on the wall as early as infancy — if only there were a way to read it and intervene before the academic, social and emotional damage is done.

Read Full Story | 2 Comments | Leave a Comment

Brain samples show a wealth of single-letter and somatic mutations in autism

autism somatic mutations SNVsDisease-causing mutations can be incredibly subtle: Sometimes a single-letter change in a gene or a so-called somatic mutation (affecting only some of the body’s cells) can be enough. Researchers report this week in Neuron that both kinds of mutations — easily missed on standard blood and saliva testing — play a role in autism spectrum disorder (ASD).

Scientists have suspected a role for these mutations in brain disorders, but the technology to find them has only recently come online. Sampling brain tissue is the most likely way to find them, but brain biopsies aren’t something you do every day.

In their study, a team led by Christopher Walsh, MD, PhD, and Alissa D’Gama, of Boston Children’s Hospital and Harvard Medical School, tapped several brain banks — the NIH’s NeuroBioBank, the Oxford (U.K.) Brain Bank and Autism BrainNet — to gather brain tissue from more than 100 deceased individuals, some neurotypical and some with ASD.

Read Full Story | Leave a Comment

Targeting noncoding RNAs could be game-changing in childhood cancer: Triche

The war on pediatric cancer hasn’t been going so well in the past couple of decades, says Timothy Triche, MD, PhD, a cancer researcher at Children’s Hospital Los Angeles. The existing intensive chemotherapy regimens carry a lot of “unfortunate baggage” for children in terms of lifelong morbidity, and haven’t brought about a tremendous change in outcomes, he says.

“We really don’t have a lot of new drugs, if any, and we really don’t have new targets,” he said at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards last month. “Underlying this is the fundamental problem that we don’t understand a lot more about childhood cancer than we did before.”

In a Discovery Roundup highlighting four big ideas in pediatric care, Triche made the case for targeting the genome’s “dark matter” — the vast number of RNAs made from the genome that do not code for proteins.

Read Full Story | Leave a Comment

An iPhone and a bucket help diagnose vestibular problems in dizzy children

dizziness vestibular bucket testDizziness is fairly common in children, but it can be very hard to diagnose the cause. Any number of conditions can produce dizziness, and children are a special challenge since they often can’t describe what they’re feeling.

“One of the toughest things to figure out is, is it a problem with the vestibular system, or is it part of something else, a heart problem or an eye problem?” says Jacob Brodsky, MD, director of the Balance and Vestibular Program at Boston Children’s Hospital. “Then, the next challenging part is determining whether it is an inner ear problem or a central vestibular disorder — a problem with the brain.”

A definitive answer often requires a battery of tests that few providers outside Boston Children’s can perform in children, as they require sophisticated and expensive equipment. But with an ordinary bucket, an iPhone, an $18 app and some Velcro, Brodsky can quickly get a good indication of whether a child has a vestibular problem—and specifically an inner ear problem.

Read Full Story | Leave a Comment