Stories about: All Posts

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

Souped-up fish facility boosts drug discovery and testing

closeup of zebrafish-20150526_ZebraFishCeremony-60The care and feeding of more than 250,000 zebrafish just got better, thanks to a $4 million grant from the Massachusetts Life Sciences Center to upgrade Boston Children’s Hospital’s Karp Aquatics Facility. Aside from the fish, patients with cancer, blood diseases and more stand to benefit.

From a new crop of Boston-Children’s-patented spawning tanks to a robotic feeding system, the upgrade will help raise the large numbers of the striped tropical fish needed to rapidly identify and screen potential new therapeutics. It’s all part of the Children’s Center for Cell Therapy, established in 2013. We put on shoe covers and took a look behind the scenes. (Photos: Katherine Cohen)

Read Full Story | Leave a Comment

Fast-regenerating mice offer clues for stroke, spinal cord and optic nerve injury

axon regeneration CNS
The CAST mouse from Thailand–genetically distinct from most lab mice–may have the right ingredients for nerve regeneration. (Courtesy Jackson Laboratory)

Second in a two-part series on nerve regeneration. Read part 1.

The search for therapies to spur regeneration after spinal cord injury, stroke and other central nervous system injuries hasn’t been all that successful to date. Getting nerve fibers (axons) to regenerate in mammals, typically lab mice, has often involved manipulating oncogenes or tumor suppressor genes to encourage growth, a move that could greatly increase a person’s risk of cancer.

A study published online last week by Neuron, led by the F.M. Kirby Neurobiology Center at Boston Children’s Hospital, took a completely different tactic.

Seeing little success at first, the researchers wondered whether they were working with the wrong mice.

Read Full Story | Leave a Comment

What we’ve been reading: Week of May 18, 2015

shutterstock_197113067

From cancer to feet: the power of Twitter in healthcare (MedCity News)
Why does Twitter care about the healthcare industry? Craig Hashi, one of two Twitter engineers dedicated to healthcare, details the opportunities.

MIT’s implantable device could help docs determine best cancer medicine (Boston Business Journal)
Removing the trial and error associated with cancer drug treatments is high on oncologists’ wish lists. Heeding that call, MIT has developed an implantable device (about the size of a grain of rice) that can carry up to 30 different drug doses to a cancerous tumor, and then be removed to test responses.

Read Full Story | Leave a Comment

Clinicians and social media: Finding the right relationship

doctor_social_media_shutterstock_264246836_260x260I remember the day about 15 years ago when my doctor tentatively gave me his email address, telling me he trusted that I wouldn’t abuse it. (For the record, I’ve used that address maybe five times.)

Fast forward to today, where doctors and nurses are frequently on social media the same as the rest of us, usually behaving well, sometimes not.

What place do social media have in a physician or nurse’s career? And where do the boundaries lie?

Read the full story on Boston Children’s Hospital’s new blog for healthcare providers, Notes.

Read Full Story | Leave a Comment

Bringing CLARITY to families with undiagnosed disease

sick child-Shutterstock-croppedIn the U.S. alone, an estimated 30 million Americans suffer from a rare disorder. Many of them never receive a diagnosis, and often find themselves on a lonely journey, going from doctor to doctor and test to test, sometimes for many years, with no explanation for their symptoms.

How many people fall in the “undiagnosed” category is unclear, but in its first six years, the NIH’s Undiagnosed Diseases Program has received more than 10,000 inquiries. Without a diagnosis, it’s often difficult to qualify for insurance coverage, receive coordinated care or even connect with a support group.

What if the work of solving these medical mysteries could be crowd-sourced? That’s the goal of CLARITY Undiagnosed, an international challenge launching today in which scientific teams can compete to provide answers for five families with undiagnosed conditions. (Deadline for applications: June 11).

Read Full Story | Leave a Comment

Music and auditory skills can hone cognition and language

It may seem counterintuitive that your ability to tell different sounds apart would have anything to do with your ability to read or handle cognitive challenges. But that’s exactly what the lab of Nadine Gaab, PhD, has been showing.

Gaab discussed the research during a recent Longwood Seminar on Music as Medicine at Harvard Medical School:

The Gaab Lab has amassed an impressive body of work showing that auditory processing impairments correlate with developmental dyslexia, and that people who can detect tiny differences between sounds seem to do better both as musicians and as readers.

Read Full Story | Leave a Comment

Is that fever a problem? Ask Thermia

Thermia fever calculator HealthMap

Your child’s forehead is warm, and you just took her temperature. The next question is, what to do about it? We all know that an average normal temp is 98.6°F, but is 100° a problem? Should 102° be a concern?

This is where Thermia comes in. It’s an online fever calculator developed by the HealthMap team at Boston Children’s Hospital. Essentially, it’s an educational tool aimed at helping concerned parents interpret a child’s temperature and understand which steps they should consider taking.

“I’m a father of two, and I still wonder sometimes what a temperature actually means,” says HealthMap co-founder John Brownstein, PhD. “We realized that there really aren’t any fever calculators out there to help parents answer that question.

“Our idea with Thermia,” he adds, “was to arm families with information so they don’t panic when their child has a temperature.”

Read Full Story | Leave a Comment

The design world’s eyes are on organs-on-chips

Organs-on-chips Museum of Modern Art MoMA London Design Museum exhibit Wyss Institute Vascular Biology
Organs-on-chips on display in New York City’s Museum of Modern Art. (Photo: Wyss Institute at Harvard University)

[Update 5/18/15: According to a Wyss Institute press release, the Design Museum in London has selected the organs-on-chips as the winner of their 2015 Designs of the Year exhibition’s Product category.]

If you’re in New York City in the next few months, pop into the Museum of Modern Art (MoMA) and stop by the “This Is For Everyone: Design For The Common Good” exhibit. There—alongside displays dedicated to the “@” symbol, the pin icon from Google Maps and bricks made from living mushroom roots—you’ll find three small silicone blocks mounted on a wall panel.

Those blocks are actually three of the organs-on-chips developed in the lab of Donald Ingber, MD, PhD, founding director of the Wyss Institute for Biologically Inspired Engineering and a scientist in Boston Children’s Hospital’s Vascular Biology Program.

Earlier this month, MoMA announced its plans to include the chips as part of their exploration of contemporary design in the digital age. In the museum’s eyes, organs-on-chips are more than a way to model disease in a complex, living system—they’re also art.

Read Full Story | Leave a Comment

Timing is everything: Circadian rhythms, protein production and disease

Protein production by the clock: mouse over to learn more. (Illustration: Yana Payusova, used with permission.)

Second in a two-part series on circadian biology and disease. Read part 1.

We are oscillating beings. Life itself arose among the oscillations of the waves and the oscillations between darkness and light. The oscillations are carried in our heartbeats and in our circadian sleep patterns.

A new study in Cell shows how these oscillations reach all the way down into our cells and help mastermind the timing of protein production.

Read Full Story | Leave a Comment