In the developing world, health care providers often don’t have access to diagnostic technologies like the automated lab tests taken for granted in the resource-rich United States. Specimens often have to be sent to a distant central lab, and it can be weeks before an answer wends its way back.
That’s a tough situation when you’re, say, trying to assess whether a patient is having liver toxicity from a drug, such as drugs used to treat tuberculosis (TB) and HIV. By the time the results come back and indicate you need to stop or switch medications, the patient may be long gone, unable to travel back to the clinic.
For the past four years, Nira Pollock, MD, PhD, associate medical director of the Infectious Diseases Diagnostics Lab at Boston Children’s Hospital, has been working with Diagnostics For All (DFA), a nonprofit organization based in Cambridge, Mass., to develop and test a low-cost diagnostic device that works on the spot, involving just a finger-stick and a square of paper. The technology is all in the paper square—using wax printing and microfluidics techniques Full story »
Back in the 1990s, rheumatologist Richard Weisbart, MD, of University of California, Los Angeles (UCLA), was studying lupus in a mouse model and found that the mice were making an antibody that had the intriguing ability to get inside tissues and cells.
Dustin Armstrong, PhD, a postdoc at Novartis at the time, was trying to find molecules that could activate growth in weakened muscles—without activating possibly cancerous growth in other tissues. He saw Weisbart’s work and contacted UCLA. In 2008, he obtained seed money and founded a company around 3E10-based therapeutics for muscular diseases, now known as Valerion Therapeutics (formerly 4s3 Bioscience).
“There’s a huge need for therapies for genetic muscle diseases, and muscle was a tissue we could target well with our technology,” says Armstrong. Full story »
Will Ward at the NSTAR Walk for Boston Children’s Hospital in 2012—his family’s fifth year leading a team to raise funds for the Beggs Laboratory.
This two-part series examines two potential treatment approaches for myotubular myopathy, a genetic disorder that causes muscle weakness from birth.
Sixth-grader William Ward cruises the hallways at school with a thumb-driven power chair and participates in class with the help of a DynaVox speech device. Although born with a rare, muscle-weakening disease called X-linked myotubular myopathy, or MTM, leaving him virtually immobile, he hasn’t given up.
“From the very beginning, Alan connected with our family in a very human way,” says Will’s mother, Erin Ward. “In the scientific community, he’s been the bridge and the connector of researchers around the world. That makes him unique.”
Since the 1990s, Beggs has enrolled more than 500 patients with congenital myopathies from all over the world in genetic studies, seeking causes and potential treatments for congenital myopathies—rare, often fatal diseases that weaken children’s skeletal muscles from birth, often requiring them to breathe on a ventilator and to receive food through a gastrostomy tube. Full story »
Lin28, a known player in cancer, is hard to suppress with drugs. But two related enzymes present highly druggable targets. (Emw/Wikimedia Commons)
Two fundamental processes in biology—stem cell generation and carcinogenesis—are turning out to be closely intertwined. The lab of Richard Gregory, PhD, has been teasing out this relationship at the molecular level.
Lin28 acts by preventing maturation of Let-7—an ancient family of microRNAs found in creatures from humans to worms. Let-7 is the yin to Lin28’s yang: it causes stem cells to differentiate (embryonic stem cells, which are completely unspecialized, have very low levels of it). If a cell’s Let-7 can’t mature, it can’t differentiate; instead, it remains stem-like and can potentially become cancerous.
Suppressing Lin28 with RNA interference (RNAi) has been shown to suppress tumor growth. But Lin28 is difficult to target with drugs. Full story »
Ed Smith explains the moyamoya operation during a live webcast.
Lindsay Hoshaw contributed to this post.
It’s 7 a.m. and neurosurgeon
Ed Smith, MD, is downing a Diet Coke as he reviews the MRIs of today’s patients. He sprints up a stairwell to greet his first patient in the pre-operating wing.
Thirteen-year-old Maribel Ramos, about to have brain surgery at Boston Children’s Hospital, sits in her bed fidgeting. Smith reassures her about the operation, promises they’ll shave off as little hair as possible, and gets Maribel to crack a smile by telling her he moonlights as a hairdresser. Full story »
A technology from a small research institute, originally developed as a safer way to make embryonic-like stem cells, just hooked a very large fish. As The New York Timesreported yesterday, pharma giant AstraZeneca is betting at least $240 million that this technology could be the source of a variety of new drugs—drugs that spur the body itself to make what it needs.
In 2010, the lab of Derrick Rossi at the Immune Disease Institute, which is now the Program in Cellular and Molecular Medicine at Boston Children’s Hospital, reported that they could reprogram ordinary cells into pluripotent stem cells by simply injecting them with messenger RNAs. The mRNAs reprogrammed the cells up to 100 percent more efficiently than other techniques, and did so without becoming part of the cell’s genome, greatly reducing concerns about cancer associated with other methods.
Key to the discovery were the chemical modifications made to the mRNAs so that cells wouldn’t “see” them as viruses and attack them. This video and this article describe the modified mRNA technique, also described in Cell Stem Cell:
There’s a widespread view that attention-deficit hyperactivity disorder (ADHD) is grossly over-treated in kids, especially boys, and will eventually be outgrown. But the results of the first large, long-term population-based study, published recently in Pediatrics, suggest that couldn’t be further from the truth.
While other studies have indicated dire outcomes when children with ADHD grow up, most of these have been small and have focused on the severe end of the spectrum—for instance, boys referred to psychiatric treatment facilities. This new study, started at the Mayo Clinic and led by William Barbaresi, MD, looked at the general population of kids with ADHD and found a greater likelihood of their having other psychiatric disorders as adults, doing jail time or committing suicide.
“Only 37.5 percent of the children we contacted as adults were free of these really worrisome outcomes,” says Barbaresi, now at Boston Children’s Hospital. “That’s a sobering statistic that speaks to the need to greatly improve the long-term treatment of children with ADHD and provide a mechanism for treating them as adults.” Full story »
If we could immunize infants at birth, far more could be protected from infections.(DFID-UK Dept for International Development)
Right now, immunizations against most infections begin at 2 months of age. But that leaves newborns at risk for infections like rotavirus, whooping cough and pneumococcus during a highly vulnerable time.
In resource-poor countries, this is a serious problem: Many children see a health care provider only at birth, so may miss their chance to be protected. Worldwide, each year, more than 2 million infants under 6 months old die from infections, especially pneumonia. If we could immunize infants at birth, it would be a huge win for global health.
Unfortunately, though, newborns don’t respond to most vaccines. Their immune systems are too immature—which is why few vaccines for newborns exist. Full story »
Ed note: The Obama administration is expected to unveil plans for a decade-long Brain Activity Map project next month. This is Part One of a two-part series on brain mapping.
How is information routed in the brains of children with autism? (Image: Jpatokal/Wikimedia Commons)
It’s now pretty well accepted that autism is a disorder of brain connectivity—demonstrated visually with advanced MRI techniques that can track the paths of nerve fibers. Recent exciting work analyzing EEG recordings supports the idea of altered connectivity, while suggesting the possibility of a diagnostic test for autism.
But what’s happening on a functional level? A study published this week zooms out to take a 30,000-foot view, tracking how the brain routes information in children with autism—in much the way airlines and electrical grids are mapped—and assessing the function of the network as a whole.
“What we found may well change the way we look at the brains of autistic children,” says investigator Jurriaan Peters, MD, of the Department of Neurology at Boston Children’s Hospital. Full story »
Gretchen Hamn (L) and Margie Young screen a premature infant for retinopathy of prematurity. (Photos: Katherine C. Cohen)
We’re in the Neonatal Intensive Care Unit at South Shore Hospital. Six tiny, swaddled preemies are ready to be examined, their eyes numbed and their pupils dilated with special drops.
Gretchen Hamn, NNP, and medical assistant Margie Young go from isolette to isolette. Young tends to the first baby and gently positions him for his exam. Hamn pulls over a cart and extends a kind of hose with a camera at the tip. This she places directly on each of the baby’s eyes, taking a digital video of his retinas. Full story »