Two resilient dogs point to new targets for Duchenne muscular dystrophy

Duchenne muscular dystrophy protective genes
Suflair, at right, is alive and well at 11 years despite having the DMD mutation (courtesy Natássia Vieira)

Two golden retrievers that had the genetic mutation for Duchenne muscular dystrophy (DMD), yet remained healthy, have offered up yet another lead for treating this muscle-wasting disorder.

For several years, Natássia Vieira, PhD, of the University of São Paolo, also a fellow in the Boston Children’s Hospital lab of Louis Kunkel, PhD, has been studying a Brazilian colony of golden retrievers. All have the classic DMD mutation and, as expected, most of these dogs are very weak and typically die by 2 years of age. That’s analogous to children with DMD, who typically lose the ability to walk by adolescence and die from cardiorespiratory failure by young adulthood.

But two dogs appeared unaffected. Both ran around normally. The elder dog, Ringo, lived a full lifespan, and his son Suflair is still alive and well at age 11.

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Predicting influenza outbreaks faster with a digitally-empowered wearable device

Influenza viruses. Outbreaks can be predicted using digital health tools like Thermia.The Thermia online health educational tool, developed at Boston Children’s Hospital, has enabled one-month-faster prediction of seasonal influenza outbreaks in China, via its digital integration with a commercially-available wearable thermometer. The findings appear in a new study published in the American Journal of Public Health.

 “The fact that we were able to predict influenza outbreaks faster than China’s national surveillance programs really shows the capacity for everyday, wearable digital health devices to track the spread of disease at the population level,” says the study’s lead author Yulin Hswen, who is a research fellow in Boston Children’s Computational Epidemiology Group and a doctoral candidate at the Harvard T. H. Chan School of Public Health.

China has 620 million mobile internet users who can theoretically access the standalone Thermia application from any computer, smartphone or even the Amazon Alexa assistant.

Although the Boston Children’s team has previously demonstrated that social media can be used to track disease, this is the first time they’ve shown that outbreaks can be predicted through an integrated wearable device and online tool.

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Webchat to highlight what’s new in pediatric brain tumors

pediatric brain tumors, child MRI

Last September, the National Center for Health Statistics reported that brain tumors have overtaken the much more common leukemia as the leading cause of death from pediatric cancer. Although progress has been made and the promise of more progress is on the horizon, the cure rate for childhood brain tumors lags behind a number of other pediatric cancers.

As pediatric neuro-oncologist Peter Manley, MD, of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center told Live Science, new research on cancer genomics “is so impressive that my feeling is that we will continue to see a decline in deaths.”

To mark Brain Tumor Awareness Month, Mark Kieran, MD, PhD, clinical director of the Brain Tumor Center at Dana-Farber/Boston Children’s, will host a webchat on Monday, May 22 (3:30 p.m. ET). The live chat will highlight the latest research and treatments for pediatric brain tumors. Here’s a look back at some recent developments:

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One family, one researcher: How Mikey’s journey is fueling an attack on DIPG

Picture of Mikey on 11th birthday, shortly after his DIPG diagnosis
Mikey and his family at his 11th birthday party, just one week after he was diagnosed with DIPG, a devastating tumor in his brain stem. Since Mikey’s passing in 2008, his family has been committed to supporting DIPG research.

“It’s a brutal disease; there’s just no other way to describe DIPG,” says Steve Czech. “And what’s crazy is that there aren’t many treatment options because it’s such a rare, orphan disease.”

Czech’s son, Mikey, was diagnosed with a diffuse intrinsic pontine glioma (DIPG) on Jan. 6, 2008. It was Mikey’s 11th birthday. The fast growing and difficult-to-treat brainstem tumors are diagnosed in approximately 300 children in the U.S. each year.

Sadly, the virtually incurable disease comes with a poor prognosis for most children. The location of DIPG tumors in the brainstem — which controls many of the body’s involuntary functions, such as breathing — has posed a huge challenge to successful treatment thus far.

“Typically, they give kids about nine months,” says Czech. “Our lives changed forever the day that Mikey was diagnosed.”

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Medical milestone: Making blood stem cells in the lab

blood stem cells
The gradation of pink-to-blue cells illustrates the transition from hemogenic endothelial cells to blood progenitor cells during normal embryonic blood development. Daley, Sugimura and colleagues recreated this process in the lab, then added genetic factors to produce a mix of blood stem and progenitor cells. (O’Reilly Science Art)

Pluripotent stem cells can make virtually every cell type in the body.  But until now, one type has remained elusive: blood stem cells, the source of our entire complement of blood cells.

Since human embryonic stem cells (ES cells) were isolated in 1998, scientists have tried to get them to make blood stem cells. In 2007, the first induced pluripotent stem (iPS) cells were made from human skin cells, and have since been used to generate multiple cell types, such as neurons and heart cells.

But no one has been able to make blood stem cells. A few have have been isolated, but they’re rare and can’t be made in enough numbers to be useful.

Now, the lab of George Daley, MD, PhD, part of Boston Children’s Stem Cell Research program as finally hit upon a way to create blood stem cells in quantity, reported today in Nature.

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GALLERY: Forecasting the future of pediatric hematology/oncology

Title image for pediatric hematology/oncology predictionsRecently, the annual ASPHO (American Society for Pediatric Hematology/Oncology) meeting brought together more than 1,100 pediatric hematologists and oncologists, including a team from the Dana-Farber/Boston Children’s Cancers and Blood Disorders Center. Some of the delegates from Dana-Farber/Boston Children’s included:

Based on their discussions with their peers, these are their key takeaways from the meeting:

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Naturally-occurring molecule in tree leaves could treat anemia, other iron disorders

Hinoki cypress

“Without iron, life itself wouldn’t be feasible,” says Barry Paw, MD, PhD. “Iron transport is very important because of the role it plays in oxygen transport in blood, in key metabolic processes and in DNA replication.”

Although iron is crucial to many aspects of health, it needs the help of the body’s iron-transporting proteins. Which is why new findings reported in Science could impact a whole slew of iron disorders, ranging from iron-deficiency anemia to iron-overload liver disease. The team has discovered that a small molecule found naturally in Japanese cypress tree leaves, hinokitiol, can transport iron to overcome iron disorders in animals.

The multi-institutional research team is from the University of Illinois, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Brigham and Women’s Hospital and Northeastern University. Paw, co-senior author on the new paper and a physician at Dana-Farber/Boston Children’s, and members of his lab demonstrated that hinokitiol can successfully reverse iron deficiency and iron overload in zebrafish disease models.

“Amazingly, we observed in zebrafish that hinokitiol can bind and transport iron inside or out of cell membranes to where it is needed most,” says Paw.

This gives hinokitiol big therapeutic potential.

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Preparing patients and families to manage ventricular assist devices

Beth Hawkins ventricular assist devices

Children in severe heart failure sometimes have a ventricular assist device (VAD) implanted in their chest. VADs are electrically-powered heart pumps that can tide children over while they wait for a heart transplant. They can also be implanted long term if a child is ineligible for transplant, or simply buy children time to recover their own heart function.

Because problems with VADs can be life-threatening, families need extensive training in managing the device and its external controller at home. Nurse practitioner Beth Hawkins RN, MSN, FNP-C, and her colleagues in the Boston Children’s VAD Program begin the training at the child’s hospital bedside while they are still in the cardiac ICU. But despite lectures, demos and practice opportunities, the prospect of maintaining a VAD remains terrifying for many parents and children.

“A lot of families feel their child is attached to a ticking time bomb that could go off at any time,” says Hawkins. “Many say taking a child home on a VAD feels like having a newborn baby again.”

Hawkins realized that families needed more support.

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Fast brain waves: A better biomarker for epilepsy

EEG and MEG detection of HFOs, fast brain waves associated with epilepsy
Localization of fast brain waves, called HFOs, with scalp EEG (left) and MEG (right). HFOs present a new biomarker for areas of the brain responsible for epileptic seizures.

In the U.S., about one in 100 people have some form of epilepsy. A third of those people have seizures that cannot be controlled with drugs, eventually requiring surgery to remove the area of their brain tissue that is triggering seizure activity.

“If you can identify and surgically remove the entire epileptogenic zone, you will have a patient who is seizure-free,” says Christos Papadelis, PhD, who leads the Boston Children’s Brain Dynamics Laboratory in the Division of Newborn Medicine and is an assistant professor in pediatrics at Harvard Medical School.

At present, however, these surgeries are not always successful. Current diagnostics lack the ability to determine precisely which parts of an individual’s brain are inducing his or her seizures, called the epileptogenic zone. In addition, robust biomarkers for the epileptogenic zone have been poorly established.

But now, a team at Boston Children’s Hospital is doing research to improve pre-surgical pinpointing of the brain’s epileptogenic zone. They are using a newly-established biomarker for epilepsy — fast brain waves called high-frequency oscillations (HFOs) — that can be detected non-invasively using scalp electroencephalography (EEG) and magnetoencephalography (MEG).

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To address chronic pain, you need to address sleep

chronic pain
Acute or chronic sleep loss exacerbates pain, finds a study that kept mice awake for long periods by entertaining them.

The ongoing opioid epidemic underscores the dire need for new pain medications that aren’t addicting. New research published today in Nature Medicine suggests a possible avenue of relief for people with chronic pain: simply getting more sleep, or, failing that, taking medications to promote wakefulness.

In an unusually rigorous mouse study, either approach relieved pain better than ibuprofen or even morphine. The findings reveal an unexpected role for alertness in setting pain sensitivity.

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