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. …
“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.” …
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.
Recently, 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:
Amy Billett, MD: president of ASPHO, director of safety and quality and a hematologist/oncologist at Dana Farber/Boston Children’s
“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. …
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). …
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. …
It began with the proteins. Before Watson and Crick unraveled DNA’s double helix in the 1950s, biochemists snipped, ground and pulverized animal tissues to extract and study proteins, the workhorses of the body.
Then, in 1990, the Human Genome Project launched. It promised to uncover the underpinnings of all human biology and the keys to treating disease. Funding for DNA and RNA tools and studies skyrocketed. Meanwhile, protein science fell behind.
While genomics unveiled a wealth of information, including the identity of genes that lead to disease when mutated, researchers still do not fully understand what all the genes really do and how mutations change their function and cause disease.
Now proteins are promising to provide the missing link. …
In 1962, the Harvard School of Public Health made a critical loan to Boston Children’s Hospital: the Harvard hyperbaric chamber. It established a new approach to pediatric heart surgery at Boston Children’s.
For many children — including a premature infant named Janet, born in 1964 with a heart murmur — the hyperbaric chamber would prove to be life-saving.
At that time, before the invention of the heart-lung bypass machine, hyperbaric chambers offered a way to operate on infants more safely. That’s because hyperbaric oxygenation, coupled with the effects of increased pressure on the respiratory system, seemed to give infants a better chance of surviving heart surgery. …
When epilepsy can’t be controlled with drugs, neurosurgery is sometimes curative, if the seizures are coming from discrete brain tissue that can be safely removed.
Finding these diseased areas, however, can require invasive surgery to place grids of electrodes on the brain’s surface. That’s followed by long-term, 24-hour EEG monitoring — typically for a week — until a seizure happens. Neurosurgeons then use this data to map a surgical path. But to actually remove the diseased tissue, a second operation is needed.
That’s enough to deter many families from epilepsy surgery. But what if seizure origins could be mapped without having to actually observe a seizure?
Joseph Madsen, MD, director of Epilepsy Surgery at Boston Children’s Hospital, and Eun-Hyoung Park, PhD, a computational biophysicist in the Department of Neurosurgery, think they have a way to do that — with an algorithm originally used for economic forecasting. …