Stories about: diagnostic tests

To monitor health, simply trip the ‘nanoswitches’

WATCH: DNA nanoswitches change shape in the presence of biomarkers. The shape change is revealed in a process called gel electrophoresis. Credit: Wyss Institute at Harvard University

“Nanoswitches” — engineered, shape-changing strands of DNA — could shake up the way we monitor our health, according to new research. Faster, easier, cheaper and more sensitive tests based on these tools — used in the lab or at point of care — could indicate the presence of disease, infection and even genetic variabilities as subtle as a single-gene mutation.

“One critical application in both basic research and clinical practice is the detection of biomarkers in our bodies, which convey vital information about our current health,” says lead researcher Wesley Wong, PhD, of Boston Children’s Hospital Program in Cellular and Molecular Medicine (PCMM). “However, current methods tend to be either cheap and easy or highly sensitive, but generally not both.”

That’s why Wong and his team have adapted their DNA nanoswitch technology — previously demonstrated to aid drug discovery and the measure of biochemical interactions — into a new platform that they call the nanoswitch-linked immunosorbent assay (NLISA) for fast, sensitive and specific protein detection. It’s described this week in the Proceedings of the National Academy of Sciences.

Read Full Story | Leave a Comment

The diagnostic odyssey: Parents shed light on their experience

the diagnostic journey
Robert Salmon: Storm at sea (Wikimedia Commons)

Nikkola Carmichael, MS, CGC, is a parent and a genetic counselor in the adult genetics clinic at Brigham and Women’s Hospital. Her research was conducted as part of her master’s degree in genetic counseling in conjunction with colleagues at Boston Children’s Hospital.

When a parent or provider first becomes concerned about a child’s development, a diagnostic odyssey begins. It may be brief or can stretch for years as a child undergoes multiple procedures and medical appointments in the search for a diagnosis.

This is a challenging time for families. While learning to address their child’s health needs and fearing for the future, parents may have difficulty accessing support services due to the lack of a diagnosis. Against this backdrop of emotional turmoil, parents strive to support their child through medical procedures that can be painful or frightening.

Read Full Story | Leave a Comment

A 28-gene test for kidney disease

dialysis nephrotic syndrome
Understanding the genetic causes of nephrotic syndrome could lead to better drug treatments that reduce the need for dialysis or a kidney transplant. (Image: Wikimedia Commons)

Nephrotic syndrome is one of the worst diseases a child can have. It strikes the filtering units of the kidney, structures known as glomeruli. There’s no good treatment: Steroids are the main therapy used, but 20 percent of cases are steroid-resistant. In the syndrome’s most severe form, focal segmental glomerulosclerosis (FSGS), children are forced onto chronic dialysis and often require a kidney transplant—often only to have their disease recur in the new organ.

Until recently, no one knew what caused nephrotic syndrome; the first causative gene was identified just a dozen years ago. The lab of Friedhelm Hildebrandt, MD, PhD, at Boston Children’s Hospital is one of a handful that’s been chipping away at the others.

Hildebrandt receives, on average, one blood sample a day from patients all over the world.

Read Full Story | 1 Comment | Leave a Comment

Consistency and cost: Why reducing variability in health care matters

Many doctors still chafe at practicing "cookbook medicine." (Tim Sackton/Flickr)
The argument that 'I do not practice cookbook medicine' still resonates with many practitioners. (Tim Sackton/Flickr)
Mark Neuman, MD, MPH, practices emergency medicine at Boston Children’s Hospital and is director of Fellow Research and Research Education. Vincent Chiang, MD, chief of Children’s Inpatient Services (CHIPS), contributed to this post, adapted from their recent commentary in Pediatrics.

It’s no secret that the U.S. health care system is in the midst of a financial crisis. As a nation, we spend nearly 18 percent of our Gross Domestic Product on health care, and health care costs remain the largest contributor to the national debt. In 2011 alone, the cost of maintaining the nation’s 5,700 hospitals exceeded $770 billion.

If ever there was a time for a societal mandate to reduce health care costs, that time is now.

It’s widely accepted that one of the first steps to reigning in runaway health care costs is reducing variability in the manner in which care is delivered. Well-defined and well-disseminated best practice guidelines can improve the reproducibility and standardization of care. In time, these guidelines may reduce costly and unnecessary tests and hospitalizations, while providing a platform on which to measure and enhance quality. More consistency may also allow providers to be more efficient with their time, space and personnel.

If it’s so costly, why is health care variability so abundant?

Read Full Story | Leave a Comment

Whole-genome sequencing in medicine: New knowledge, new responsibilities

(Karl-Ludwig Poggemann/Wikimedia Commons)

Recently, in the hospital cafeteria, I overheard a group of researchers discussing the upcoming availability of whole-genome sequencing to physicians. “We should devise a way to study how physicians will use this,” said one of them—underscoring the disruptive nature of the transformation that is currently happening in medicine.

The ability to immediately obtain whole-genome sequences from patients holds enormous potential for understanding and treating human disease. The list of studies reporting successful diagnosis of otherwise elusive orphan conditions is already too long to recount—more than 600 articles in PubMed as of the date of this posting—including poignant examples of advancing clinical care.

Read Full Story | Leave a Comment

3 smartphone health apps you might not have expected

Melinda Tang, MEng, is a software developer for the Innovation Acceleration Program at Children’s Hospital Boston. This post is the first of a series highlighting fun and helpful mobile health applications and other interesting apps that developers in health care can learn from.

With more than 1 million mobile apps available today, there’s no doubt that mobile devices are changing the way we operate. With the push of a button or tap of a screen, we can turn our smartphones from entertainment consoles to travel guides to personal health monitors. One report estimates that a half billion people will be using mobile health apps by 2015.

Here are a few interesting examples I shared with the Mobile Apps working group at Children’s Hospital Boston, to inform our growing cadre of app developers and other health-IT-minded folks. These apps provide innovative solutions to problems you may never have thought your cell phone could solve — and in ways you might not have expected.

Mosquito Buster is an extremely simple app that lets you use your phone to replace standard mosquito repellants such as sprays and candles. Turn on the app, and your phone will emit a high-frequency pitch

Read Full Story | 3 Comments | Leave a Comment

BioPharm 2011: Stakeholders’ changing roles in therapeutic development

Can we get this family to function? (Photo: eyeliam/Flickr)

My summary of BioPharm America 2011: We are a family and we just need to work together. As stakeholders in developing new treatments, we each have our own shortfalls and strengths, we’re under pressure, and our roles are changing over time.

Here’s the panelists’ take on the different players.

Big pharma: The old business model is broken. Pharma is cutting R&D and other programs that aren’t generating enough return. Companies now approach markets differently, said Angus Russell, CEO of Shire. A new product doesn’t have to be a first-line therapy to justify market entry; there’s a business case for selling a targeted drug to patients who don’t respond to generics and have no other solution.

Read Full Story | Leave a Comment

Early brain checkups for dyslexia, autism and more

Researchers are seeking to track the brain at earlier and earlier ages (here, the brain of a newborn baby born 10 weeks prematurely). © FNNDSC 2011

For the third year running, my daughter is participating in a dyslexia study she entered at age 5, just after finishing preschool. Thinking she was part of a game, she spent about 45 minutes lying still in a rocket ship (in reality, an MRI scanner), doing mental tasks she believed would help lost aliens find their way back to their planet.

All the while, her brain was being imaged, helping a team led by Nadine Gaab of Children’s Laboratories of Cognitive Neuroscience to find a pattern indicating that she might be at risk for dyslexia. Such signatures might flag children who could benefit from early intervention, sparing them the frustration of struggling with dyslexia once in school.

Getting brain MRIs from young childrenwithout resorting to sedation — is a difficult feat (Gaab and colleagues shared their protocol in the Journal of Visualized Experiments). But as reported in today’s Boston Globe, Gaab and Children’s neuroradiologist Ellen Grant are pushing the envelope even further, trying to find MRI signatures of dyslexia in infants.

Read Full Story | Leave a Comment

The brain whisperer: Tracking EEG footprints of autism and mental illness

EEG signals may reflect underlying brain connectivity patterns in autism. This brain has less dense local clusters linked by long-range connections, which may represent a normal pattern. The brain at right has denser, more uniform local connectivity with fewer long-distance connections in some regions.

Bill Bosl is used to looking for patterns. A computer scientist trained in atmospheric physics, geophysics and mathematics, he’s invented a method for computing properties of porous materials from CT scans. At the Lawrence Livermore National Lab, he worked on remote sensing problems, reading complex wave patterns to discern the location of groundwater, oil deposits and fault lines.

Today, he’s trying to measure thought – to compute what’s going on in hard-to-understand disorders like autism, which is currently diagnosed purely on the basis of behavior.  “The mathematical methods are very similar,” he says. “You’re analyzing waves.”

The waves in this case are electroencephalograms (EEGs), those squiggly lines generated by electrical activity in the brain. In autism,

Read Full Story | Leave a Comment

Better diagnostic testing for newborns with galactosemia

Babies with galactosemia cannot properly break down the sugar galactose.

For babies born with galactosemia, the simple act of feeding can be deadly. In this rare inherited disease, infants are deficient in an enzyme known as GALT, leaving them unable to metabolize galactose, a sugary byproduct of lactose found in milk and other dairy foods. Instead, galactose builds up and wreaks havoc. If the condition isn’t caught at birth and treated with a lactose-free diet, infants can develop cataracts, brain swelling and organ failure and die within the first few weeks of life.

However, some babies do have enough enzyme to keep the levels of this sugar down, and have a much milder ”variant” form of the disease. The trouble is, the existing newborn screening test cannot always distinguish these children from those with the more severe form of the disease. 

Read Full Story | Leave a Comment