When rare diseases are taken together, they’re not all that rare. Their underlying genes provide biological insights that drive therapeutic advances and often shed light on more common disorders. Thanks to advances in genomics and bioinformatics, growing interest from pharma and a burgeoning citizen science movement, rare disease is poised to rock biomedicine. This Storify recaps a Twitter chat hosted by the NIH (#NIHchat) ahead of Rare Disease Day on February 29. People shared statistics, great examples of rare disease science, directories of diseases/disease organizations and tools for patients, clinicians and researchers. …
Programmed cell death, or apoptosis, helps keep us healthy by ensuring that excess or potentially dangerous cells self-destruct. One way cells know it’s time to die is through signals received by so-called death receptors that stud cells’ surfaces. When these signals go awry, the result can be cancer (uncontrolled cell growth) or autoimmune disease (cells self-destructing too readily).
Researchers at Harvard Medical School (HMS) and the Program in Cellular and Molecular Medicine at Boston Children’s Hospital deconstructed a death receptor called Fas to learn more about its workings, using nuclear magnetic resonance (NMR) spectroscopy to reveal its structure.
They found that for immune cells to hear the “time to die” signal, a portion of Fas called the transmembrane region must coil into an intricate three-part formation, allowing the signal to pass into the cell. The NMR imaging also revealed that the amino acid proline is critical for the formation’s stability. Cancer-causing mutations in the transmembrane region (one of them affecting proline itself) deformed this delicate structure and prevented signals from passing through.
This better understanding of the Fas death receptor, published last week in Molecular Cell, could lead to new approaches that bypass Fas to encourage apoptosis in cancer or, conversely, inhibit Fas in autoimmune disease.
What does 2016 have in store in the realm of science and clinical innovation? Vector asked clinical, digital and business leaders from around Boston Children’s Hospital to offer their forecasts. …
It’s been an exciting year for pediatric health care. As Thanksgiving draws near, Vector is taking a pause to acknowledge the inspiring people and ideas that are helping set the table for a better future.
What are we thankful for?
The growing cadre of citizen scientists — passionate parents pushing for answers for their kids, helping to move rare disease research forward through their own investigations and initiatives. They’re keeping academic researchers honest and on top of their game, and, in many cases, helping to fund them.
The growing inclination among clinicians to say, “the way things are isn’t good enough,” and then push the boundaries of what’s possible to improve sick children’s lives. …
The 20th century saw great strides in curing childhood cancer, thanks primarily to the discovery that broadly toxic chemotherapy agents could kill malignant cells. Once virtually incurable, pediatric cancer now has an overall long-term survival rate topping 80 percent.
In the 21st century, attention is turning to additional, less toxic developments in cancer therapy. Lisa Diller, MD, Chief Medical Officer of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, cites four coming changes:
- Precision medicine treatments targeting specific genetic and epigenetic pathways
- Immunotherapy drugs gaining FDA approval
- Innovations to reduce treatment toxicity
- A stronger focus on improving survival of childhood cancer globally.
Funding drives biomedical research, and research drives treatment innovation. Access to funds, particularly National Institute of Health (NIH) awards, is critical to move research forward. The 21st Century Cures Act, which passed the U.S. House on July 10, could give the NIH $8.75 billion more in new grants to disperse over the next five years, the largest increase since the Recovery Act of 2009.
How would those funds be used? Can research find a better way to treat patients? Prevent disease? Disseminate advances in medicine?
In 2014, Boston Children’s led the U.S. in NIH awards. Here’s a look at how a few research teams are leveraging NIH funding to improve care for both children and adults.
Some great inventions were on view this week at the second annual Boston Children’s Hospital Innovators Showcase. Hosted by the hospital’s Innovation Acceleration Program and Technology & Innovation Development Office, the event featured everything from virtual reality goggles with gesture control to biomedical technologies. Below are a few new projects that caught Vector’s eye (expect to hear more about them in the coming months), a kid-friendly interview about the SimLab and list of inventions kids themselves would like to see. (Photos by Katherine Cohen except as noted) …
From a series on researchers and innovators at Boston Children’s Hospital.
Kaifeng Liu, MD, a research fellow at Boston Children’s Hospital, takes his inspiration from ants.
“We’re often amazed by the power of large animals—whales, eagles, lions and tigers,” he says. “But these animals are genetically born with the strength to overpower other animals. Ants are small and hardworking. They work inch by inch and create a teamwork culture. Most of us are like ants. We have an average level of talent and are not able to perform like a lion. But we can work like ants and create beautiful things by working hard as part of a team—day by day, little by little.”
Liu has taken this inch-by-inch approach in a radical redesign of the conventional suturing needle: “I started to play with the surgical needle in graduate school in 1986.”
Nearly three decades later, Liu has devised an extremely short magnetic needle that transforms the current method of suturing—stitching with a needle and thread—that has been used for thousands of years. …
From a series on researchers and innovators at Boston Children’s Hospital
Margaret McCabe, PhD, director for nursing research in the medicine patient services at Boston Children’s Hospital, is an unlikely hacker. A former techno-phobe and chronically fatigued mother of four, McCabe didn’t think she had time for another project.
Some opportunities, however, are too good to resist. That was the case when McCabe, who thrives on interacting with people who think outside of the box, started brainstorming with colleagues about Hacking Pediatrics.
She signed as a co-founder of the group, an organization of self-described geeks from Boston Children’s and MIT’s H@cking Medicine committed to hacking the status quo in pediatric health care. “It’s the attraction to innovation,” she confesses.
McCabe describes the lure of hacking and the role of nurses in innovation. …
From a series on researchers and innovators at Boston Children’s Hospital
For a researcher who started her career studying sound waves in the ocean, winning a BRAIN Early Concept Grant for Exploratory Research (EAGER) grant from the National Science Foundation is a pretty impressive accomplishment. The grant, part of President Obama’s BRAIN Initiative to advance transformative research on the brain, affirms Caterina Stamoulis’s shift of focus from the depths of the sea to the depths of the brain. She’s not alone: the neuroscience field is attracting scientists from the physical sciences who bring a fresh perspective to the analysis of brain signals.
What are the goals of your BRAIN project?
We aim to characterize age-related changes in the brain’s rhythmic activity (neural oscillations) during the first three years of life. The brain changes at a remarkable pace during this period. It is also a period when several neurodevelopmental disorders, such as autism spectrum disorders (ASD), manifest themselves.
To understand how these disorders affect brain activity and consequently cognitive function, we first need to better understand how fundamental aspects of brain activity, such as neural oscillations, change with age in the typically developing brain. To characterize the trajectories of these oscillations, we will use novel computational tools and large volumes of human electrophysiological (EEG) data. …