Author: Nancy Fliesler

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

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

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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

teens smoking pot resized-shutterstock_198368684

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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Drug ‘cocktail’ could restore vision in optic nerve injury

regenerating nerves-cropped
Gene therapy achieved extensive optic nerve regeneration, as shown in white, but adding a potassium channel blocking drug was the step needed to restore visual function. In the future, it might be possible to skip gene therapy and inject growth factors directly. (Fengfeng Bei, PhD, Boston Children’s Hospital)

When Zhigang He, PhD, started a lab at Boston Children’s Hospital 15 years ago, he hoped to find a way to regenerate nerve fibers in people with spinal cord injury. As a proxy, he studied optic nerve injury, which causes blindness in glaucoma — a condition affecting more than four million Americans — and sometimes in head trauma.

By experimenting with different growth-promoting genes and blocking natural growth inhibitors, he was able to get optic nerve fibers, or axons, to grow to greater and greater lengths in mice. But what about vision? Could the animals see?

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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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How amniotic and cerebrospinal fluids talk to the developing brain: proteomics

proteomics amniotic fluid cerebrospinal fluid brain development
Counterclockwise, from bottom left: In the earliest stage of nervous system development, the amniotic fluid is rich with proteins, shown as dots, that communicate with neural stem cells. As the neural tube closes and the brain takes shape, the proteins become fewer and less complex. (Hillary Mullan, Boston Children’s Hospital)

When we were developing in the womb, we were immersed in amniotic fluid. As our nervous systems formed, some of this fluid was trapped inside the neural tube, forming the cerebrospinal fluid that bathes our brains.

In the past, these fluids have been seen as a “cushion” or a place to dump waste products. But new research suggests that they actively participate in nervous system development.

Publishing this week in Developmental Cell, researchers led by Maria Lehtinen, PhD, and Kevin Chau in the Department of Pathology at Boston Children’s Hospital show that amniotic fluid and cerebrospinal fluid (CSF) contain rich portfolios of proteins that tell neural stem cells what to do — how to divide and what kinds of cells to make. They also show that the messages change in different phases of development.

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Message banking: Giving a voice to adults with ALS and kids in the ICU

Roughly 30,000 people in the U.S. currently live with amyotrophic lateral sclerosis (ALS), a fatal disease in which the motor nerve cells of the brain and spinal cord (which signal muscles to contract) slowly but progressively degenerate. Eventually, ALS robs people of the ability to move and speak.

But they can still have a voice.

“We can’t change someone’s medical diagnosis,” says John Costello, MA, CCC-SLP, director of Boston Children’s Augmentative Communication Program (ACP) at Boston Children’s Hospital. “But we can support people to maintain dignity, control and social connectedness while expressing their true selves and remaining active members of the world around them.”

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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.

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