Boston Children’s Hospital convened the National Pediatric Innovation Summit + Awards 2013 with an ambitious goal: to bring together thought leaders to address the toughest challenges in pediatric health care. During the two-day summit, a series of panels and town hall discussions sparked dynamic dialogue.
While the summit was designed as a forum for ongoing discussion and relationship building, five key takeaways have emerged. Full story »
First-generation clinical decision support has been plagued by poor uptake among physicians, largely due to its overwhelming nature and perceived lack of applicability to clinical practice. But predictive analytics, built into these platforms, could produce the next significant wave in innovation in pediatric care, according to Joseph Frassica, MD, chief medical informatics officer and chief technology officer of Philips Healthcare.
Frassica spoke about predictive analytics last week at a panel on innovation acceleration at the Boston Children’s Hospital National Pediatric Innovation Summit + Awards 2013. Vector caught up with him afterward. Full story »
The Human Genome Project’s push to completely sequence the human genome ran a tab of roughly $2.7 billion and required the efforts of 20 research centers around the world using rooms full of equipment.
But that was using technology from the 1990s to early-2000s. As by a panel of genomics experts from industry and academia pointed out at last week’s National Pediatric Innovation Summit + Awards, a scientist in a single laboratory today can sequence a genome for as little as $1,000, making sequencing almost a medical commodity.
Now what? How do we go about making clinical genomics an everyday thing? The discussion left the answer to that question—and the other questions it raises—unclear. While the panelists expressed excitement about what’s possible, they cited great uncertainty among doctors, scientists, patients, payers, companies and regulators about how to make clinical genomics work. Full story »
Understanding asthma's different pathways may allow individualized treatments.
Existing asthma drugs don’t work well in many people, and a major reason is becoming clear: Asthma isn’t just one disease, but a collection of diseases that cause airways to constrict and become twitchy. Different types of asthma have different triggers that exacerbate the disease, each setting off a different part of the immune system, and each needing a different pharmacologic approach.
In this week’s Nature Medicine, a team led by Dale Umetsu, MD, PhD, and Lee Albacker, PhD, of Boston Children’s Hospital’s Division of Immunology and Harvard Medical School, describe a type of asthma triggered by the fungus Aspergillus fumigatus, a common mold.
Existing asthma control drugs, like inhaled corticosteroids, target allergic asthma, via pathways involving adaptive immunity and a group of T cells, known as Th2 cells. However, the new work, in live mice and in human cell cultures, suggests that Aspergillus triggers asthma through a faster process involving the innate immune system. In both mice and humans, Aspergillus activates a different set of T cells, known as natural killer T cells (NKT cells). Full story »
Face models made through 3D printing (S zillayali/Wikimedia Commons)
Thorsten Schlaeger, PhD, heads the Human Embryonic Stem Cell Core of the Boston Children’s Hospital Stem Cell Program.
I recently took my 6-year-old son to a Family Science Day, hosted by the 2013 American Association for the Advancement of Science (AAAS) Annual Meeting in Boston. He was most excited by a model airplane made out of parts that had been generated with a 3D printer. The scientist, from MIT, explained to us how this technology works: Instead of generating 2D printouts by spraying ink onto paper, 3D printing technologies assemble 3D objects layer by layer from a digital model, generally using molten plastics or metals.
3D printing is quickly being adopted by many professions, from architects and jewelers who want to build mock-ups for clients, to manufacturers of products like bikes, cars or airplanes. Soon we might all have 3D printers in our homes: The kids could design and print their own toys, while the grownups might use the technology to generate replacement parts for minor home improvement jobs (our broken shower faucet knob comes to mind). Full story »
Vector has been deliberating about its predictions for 2013, consulting its many informants. Here’s where we’re putting our money this year; if you have other ideas, scroll to the bottom and let us know.
Genome sequencing scaling up at health care institutions
Last year we predicted genome sequencing’s entry into the clinic; this could be the year it goes viral. Technology companies with ever-faster sequencers and academic medical centers are teaming up at a brisk pace to offer genomic tests to patients. Just in the past two weeks, a deal was announced between The Children’s Hospital of Philadelphia and BGI-Shenzhen to sequence pediatric brain tumors; Partners HealthCare and Illumina Inc. announced a network of genomic testing laboratories; Full story »
A new spinoff business will make large-scale genomic diagnostics a reality in medical practice (Image: Rosendahl)
Genomic sequencing and molecular diagnostics are becoming a global business. At the recent American Society of Human Genetics meeting, dazzling technologies for reading genetic code were on display—promising faster, cheaper, sleeker.
Nevertheless, it’s become clear that the ability to determine someone’s DNA or RNA sequence doesn’t automatically translate into useful diagnostics or even actionable information. In fact, the findings are often confusing and hard to interpret, even by physicians.
That’s where academic-industry partnerships can flourish—tapping the deep expertise of medical research centers to bring clinical meaning to sequencing findings. Yesterday, Boston Children’s Hospital and Life Technologies Corp. announced a new venture with a great list of ingredients: fast, accurate, scalable sequencing technology—Life’s Ion Proton® Sequencer—but also research and clinical experience in rare and genetic diseases, bioinformatics expertise to handle the big data, and the medical and counseling expertise to create meaning from the results. Full story »
A “heat map” for autism gene expression (click to enlarge). Each row represents one of the 55 genes differently expressed in ASD patients vs. controls; columns show expression profiles for each of the 99 subjects. Genes in red have relatively increased gene activity; green, reduced activity. The bars along the bottom show how ASD patients vs. controls are distributed; overall, the ASD group has more genes over-expressed, while the control group has more down-regulated. The brackets at left connect genes that tend to be expressed together, while those along the top link individuals with similar gene expression patterns.
Though autism can respond well to early behavioral interventions, it’s typically not diagnosed in the U.S. until around age 5, when these interventions are less effective. Autism is diagnosed based on a child’s behaviors and language, which take time to develop to the point where clinicians can reliably assess them. What’s really needed is a fast, objective test when a child is much younger, before symptoms even show up.
In the past decade, researchers have chipped away at the problem, linking more than a dozen genetic mutations to autism—from small DNA “spelling” changes to lost or extra copies of a gene or genes (known as copy number variants) to wholesale chromosome abnormalities. Tests have been created, such as the chromosomal microarray test. But together, the known mutations account for, at best, 1 in 5 autism cases among tested patients. Full story »
Colombian twins Miranda and Olivia Agudelo (with their parents) were the first patients in a clinical trial aimed at making the bone marrow transplant process less toxic.
One thing that most people don’t realize about stem cell transplants (also called bone marrow or hematopoietic stem cell transplants) is that for patients, the transplant itself is probably the easiest part of the process. The grueling part is the preparation for a transplant, called conditioning.
There’s been a lot done at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC) and elsewhere to make conditioning less toxic. With a new clinical trial in a rare genetic syndrome called dyskeratosis congenita (DC), doctors at DF/CHCC are taking an even bolder step. Full story »