Author: Nancy Fliesler

20-week treatment makes life safer for kids with peanut allergy

peanut allergy

A study last week in The New England Journal of Medicine suggests that exposing infants to peanuts can provide lasting protection against peanut allergy. But what about peanut-allergic children right now? They and their parents live a life of precautions — from pre-screening birthday party menus to segregation at the school lunch table — to avoid life-threatening consumption of even trace amounts of peanut.

Now, a multicenter study reports on a protocol combining the allergy medication omalizumab (Xolair) with controlled, gradually increasing peanut consumption. After 20 weeks, most initially allergic children could safely consume the equivalent of 8 to 10 peanuts at a time. Three months after stopping the medication, most had worked up to 16 to 20 peanuts.

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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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Creating a blueprint for rare disease medicine

blueprint for rare disease medicinePresident Obama’s Precision Medicine Initiative, first laid out in his 2015 State of Union Address, aims to develop individualized care that empowers patients and takes into account genetic, environmental and lifestyle differences. Obama is asking Congress for $309 million for the initiative next year.

One big component is the Department of Veteran Affairs’ Million Veteran Program, which has signed up more than 450,000 veterans to date and is now open to active-duty military personnel. Another is NIH support for cancer trials that match treatments with patients’ genomic profiles.

Parent/citizen scientist Matt Might has in mind another group: patients with undiagnosed genetic disorders. In searching for a diagnosis for his son Bertrand, Might came up with a precision medicine algorithm that outlines step by step what a patient and family can do — from genomic sequencing to finding similar patients to working with biomedical researchers to find therapeutic strategies. It’s an impressively comprehensive blueprint for citizen science.

As Might detailed today at a White House summit on the Precision Medicine Initiative, he now has worms at the University of Utah modeling his son’s disease, whose symptoms include seizures, extreme developmental delay and an inability to make tears. He also has a molecular target and a list of 70 compounds that hit it, including 14 that are already approved by the FDA.

Can Might’s vision be scaled and made part of routine medical care, keeping the patient front and center?

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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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Science seen: Mapping touch perception in cerebral palsy

sensory brain mapping in cerebral palsy

Cerebral palsy (CP) is the most common motor disability of childhood. The brain injury causing CP disrupts touch perception, a key component of motor function. In this brain image from a child with CP (click to enlarge), the blue lines show nerve fibers going to the sensory cortex. The colored cubes at the top represent the parts of the sensory cortex receiving touch signals from the thumb (red cube), middle finger (blue) and little finger (green). An injury in the right side of the brain (dark area) has reduced the number of nerve fibers on that side, reducing touch sensation in the left hand and resulting in weakness.

Christos Papadelis, PhD, of Boston Children’s Hospital’s Division of Newborn Medicine hopes to use such sensory mapping information to develop better rehabilitation therapies. P. Ellen Grant, MD, director of the Fetal-Neonatal Neuroimaging and Developmental Science Center, Brian Snyder, MD, of the Cerebral Palsy Program and research assistant Madelyn Rubenstein are part of the team.

 

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CDKL5: Understanding rare epilepsies, patient by patient, neuron by neuron

CDKL5 epilepsy
Haley with her parents and neurologist Heather Olson (right)

Nine-year-old Haley Hilt has had intractable seizures all her life. Though she cannot speak, she communicates volumes with her eyes. Using a tablet she controls with her gaze, she can tell her parents when her head hurts and has shown that she knows her letters, numbers and shapes.

Haley is one of a growing group of children who are advancing the science around CDKL5 epilepsy, Haley’s newly recognized genetic disorder. When Boston Children’s Hospital geneticist Joan Stoler, MD, diagnosed Haley in 2009, there were perhaps 100 cases known in the world; today, there are estimated to be a few thousand. Haley’s neurologist, Heather Olson, MD, leads a CDKL5 Center of Excellence at the hospital that is bringing the condition into better view.

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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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Genetic analysis backs a neuroimmune view of schizophrenia: Complement gone amok

schizophrenia C4
C4 (in green) located at the synapses of human neurons. (Courtesy Heather de Rivera, McCarroll lab)

A deep genetic analysis, involving nearly 65,000 people, finds a surprising risk factor for schizophrenia: variation in an immune molecule best known for its role in containing infection, known as complement component 4 or C4.

The findings, published this week in Nature, also support the emerging idea that schizophrenia is a disease of synaptic pruning, and could lead to much-needed new approaches to this elusive, devastating illness.

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Fertility preservation for children with cancer: What are the options?

sperm_and_egg__SebastianKaulitzki_shutterstock_1762515_800x500_Notes

More than 75 percent of children diagnosed with cancer are surviving into adulthood, leaving more and more parents to wonder: Will my child be able to have children down the road?

They’re right to be concerned. The cancer treatments that are so effective at saving children’s lives can themselves cause a host of problems that don’t manifest until years later. These late effects include particularly harsh impacts on fertility.

On our sister blog Notes, urologist Richard Yu, MD, PhD, of Boston Children’s Hospital and fertility specialist Elizabeth Ginsberg, MD, of Brigham and Women’s Hospital outline where the science of fertility preservation is going.

“It may take 15 or 20 years to develop the techniques to help a child who is 8 years old now,” notes Yu. “But if you don’t preserve something now, you run the risk of not being able to do anything for them later, which is where we are now with a large number of adults who survived childhood cancer.”

Read more about fertility preservation and childhood cancer on Notes.

 

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Keeping up with marijuana use and its outcomes in kids

tracking marijuana use and outcomes in kids

For the first time since 1937, marijuana is legal for recreational use: adults now can legally possess it in Colorado, Washington, Oregon and Alaska, and there are similar ballot initiatives in many states. With laws at least partially legalizing marijuana in 23 states and the District of Columbia, it’s now a big business. A study comparing 2012-2013 with 2001-2002 found that marijuana use had doubled over the 10 year-period. And that was three years ago.

What are the public health consequences of freely available weed — both acute and long-term? Are we making a big mistake here?

Concerned about potential harms to adolescents, Sharon Levy, MD, MPH and Elissa Weitzman, ScD, Msc, of Boston Children’s Hospital’s divisions of Developmental Medicine and Adolescent/Young Adult Medicine respectively, argue for a better, real-time marijuana surveillance system in this week’s JAMA Pediatrics.

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