Author: Nancy Fliesler

A bridge to a 21st century ACL repair

Tears of the knee’s anterior cruciate ligament — or ACL — are on the rise in middle school and high school athletes. The current treatment involves grafting in a piece of tendon from elsewhere in the body. It works very well, but requires six months to two years of post-op rehabilitation to regain strength in the knee and the place where the tendon was taken from (often the hamstring). Plus, up to 80 percent of patients develop arthritis within 15 years of the procedure.

Orthopedic surgeon Martha Murray, MD, wondered, “What if we could somehow stimulate the original ACL to heal back together?”

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Rallying a backup gene could boost strength in spinal muscular atrophy

Vivienne-20150819Spinal muscular atrophy (SMA), a condition affecting one in every 6,000 to 10,000 children, is caused by a defect in a gene called SMN1 — which stands for “survival of motor neuron.” The defect leaves children with too little functioning SMN protein to maintain their motor neurons, which begin wasting away. Muscle strength declines and children eventually develop difficulties eating and breathing.

For Vivienne, whose name means “to live,” that meant being slow to reach motor milestones like crawling, cruising and walking as a toddler. For her parents, it meant hearing that her life expectancy would not be normal.

But a new back-door approach seems to be helping Vivienne, now in first grade, at least thus far.

As it happens, most of us carry a backup gene for SMN1 — namely SMN2.

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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.

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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.

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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.

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8 winning innovations at Hacking Pediatrics

general hackersHacking Pediatrics, now in its third year, continues to experiment with its format. 2015’s “Mashup” had a greater focus on partnerships, curation and delivering value to innovators at Boston Children’s Hospital. The brunt of the idea pitching and team formation took place in advance, allowing the event, on November 14, to be collapsed into one day.

The Hacking Pediatrics team (Kate Donovan, Mike Docktor, Meg McCabe, Cassandra Bannos and Leila Amerling) brokered collaborations with a dozen industry partners such as Microsoft, Cerner, Box, CVS Health and Boston Scientific. Over the course of a hectic 12-hour day, they worked with 17 teams of Boston Children’s innovators and experts from partner organizations who presented their final ideas to a panel of judges.

In another change for 2015, the Hacking Pediatrics team issued nine awards — but no immediate prizes. This was meant to incentivize teams to continue to work and meet milestones to earn real rewards, like a $10,000 design prize offered up by design firm Mad*Pow.

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An unusual dog, a new approach to muscular dystrophy: Stimulating a protective gene

Vieira with Ringo
Vieira with Ringo

Ringo was a golden retriever that defied the odds. Despite having the gene mutation for Duchenne muscular dystrophy (DMD), he remained healthy. And he’s provided a new lead for boosting muscle strength in DMD, one of the most common forms of muscular dystrophy. Unlike other dogs with the dystrophin mutation, who are weak and typically die by 2 years of age, Ringo was able to walk and run normally and lived to the age of 11, within the normal range for golden retrievers.

What made Ringo so resilient?

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The future of pediatric precision medicine: opportunities, barriers

“Precision medicine” looks to be heading down the same path as “big data” and “innovation”: The term is becoming so widely used that it threatens to detract from the real impact it is already having in patients’ lives.

But for children, who are still developing and have the most to gain, precision medicine is more than a bumper sticker. On the micro scale, early genetic testing—perhaps routinely, someday, in newborns—can help guide medical care, targeted therapies and preventive strategies based on a child’s genetic makeup. On a macro scale, big data from the larger population becomes a predictive tool, guiding medical decisions that could be life-altering in a still-malleable child.

“If you can make an early diagnosis, you can amplify the effects of what you do, rather than try to change the highways once they’re built,” said Wendy Chung, MD, PhD, of Columbia University Medical Center during a panel discussion last week at Boston Children’s Hospital’s Global Pediatric Innovation Summit + Awards (#PedInno15).

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Storify: The Global Pediatric Innovation Summit in tweets

Global Pediatric Innovation Summit AwardsWe’ve been covering the science and innovation news out of the Global Pediatric Innovation Summit + Awards all week. We close out with the event’s best one-liners and the attendees’ collective take on the talks, panels and announcements. Props go to @ldtimmerman and @cgcarlson for being the event’s top tweeters.

Read on for Day 1 and Day 2 highlights. For more, watch the video highlights and read the day-to-day blog coverage.

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Two big wins for rare disease

Two new developments offer glimmers of hope to patients with rare, hard-to-diagnose conditions—validation of the power of crowd sourcing and the prospect of bringing cognitive computing to rare disease diagnosis. Both developments were announced at the Boston Children’s Hospital Global Pediatric Innovation Summit + Awards (#PedInno15).

The crowd-sourcing challenge, CLARITY Undiagnosed, yesterday announced the findings of 21 teams that competed from seven countries. The winning team, Nationwide Children’s Hospital (Columbus, OH), was awarded $25,000. Invitae Corporation (San Francisco) and Wuxi NextCODE Genomics (Cambridge, MA) were named runners-up.

Each team received DNA sequences and clinical data from five families whose illnesses had eluded many prior diagnostic attempts—in some cases, even prior genomic sequencing.

“These were the toughest of the tough,” says Alan Beggs, PhD, co-organizer of CLARITY Undiagnosed and director of the Manton Center for Orphan Disease Research at Boston Children’s.

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