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.
But for a handful of children, it’s the source of one of the most devastating brain infections known—herpes simplex encephalitis (HSE)—causing fever, confusion, personality changes and seizures. If not caught and treated with high-dose antivirals, it’s highly fatal, and even with treatment most children are left with irreversible brain damage.
Why do some children develop HSE while everyone else just shrugs the virus off? Full story »
It’s been more than a decade since the Human Genome Project cracked our genetic code. DNA sequencing is getting cheaper and cheaper. So why isn’t it being used every day in medicine?
The truth is that while we have the technology to blow apart a patient’s DNA and piece it back together, letter by letter, and compare it with normal “reference” DNA, doctors don’t really know what to do with this information. How much of it is really relevant or useful? Should they be giving it back to patients and their families, and how?
Handled badly, the information could do more harm than good. “We don’t want to scare patients for no reason, or for the wrong reason,” says Isaac Kohane, MD, PhD, who chairs the Children’s Hospital Informatics Program.
Seeking a set of best practices for safe, clinically useful genomic sequencing, Boston Children’s Hospital took a crowd-sourcing approach. Full story »
Liam Burns died 12 days after birth from an unexplained set of heart defects. His parents hope the CLARITY challenge will provide a meaningful explanation.
One extended family has a range of unexplained heart defects—sometimes a hole in the heart, sometimes an arrhythmia. One child, Liam Burns, died days after birth from an underdeveloped heart, a narrowed artery to the lungs and an electrical block. Yet other family members have little more than a heart murmur. All of the defects are on the right side of the heart.
Another family’s son, 11-year-old Adam Foye, has unexplained muscle weakness and fatigue. He can walk only short distances and needs a ventilator at night to support his breathing.
These families—and a third that chose to remain anonymous—decided to submit their DNA to a challenge sponsored by Boston Children’s Hospital called CLARITY. Not only have their complete genomes been sequenced, but 30 teams all over the world—from biotech startups to the National Institutes of Health—were given access to the sequences and set loose to come up with “best practices” for interpreting the results. Two dozen turned in submissions, now being evaluated by a panel of judges.Full story »
Dante Bergskaug's epilepsy was traced to a genetic abnormality affecting just his brain cells--and about 1 in 3 of them--but it was enough to enlarge and malform the entire the right half of brain.
Dante Bergskaug started seizing soon after he was born. He had a rare condition called hemimegalencephaly—the entire right side of his brain was enlarged and malformed. He had unusually severe epilepsy, and his doctors gave him a grim prognosis, telling his parents he probably wouldn’t live to the age of 2.
Peter Black, MD, then chief of Neurosurgery at Boston Children’s Hospital, thought otherwise. “He said, ‘I see him running around outside your house, playing ball with you,’” recalls Dante’s mother Gina.
In 2003, at just 5 months of age, Dante had a hemispherectomy, or complete removal of the abnormal half of his brain. There was little to be found about the operation on the Internet, and the few families with hemimegalencephaly that the Bergskaugs knew had refused surgery. But the decision wasn’t a hard one to make.
“Every day he would have 300 seizures,” Gina says. “The medications would fail one after another. He was hardly able to eat, was really not living the life you’d want for your child. If there was any hope to put an end to this, then we were going do it.”
Dante’s seizures dropped off sharply after the operation. The Bergskaugs donated some of his brain tissue to research, and from time to time met with a young epileptologist and research fellow, Annapurna Poduri, MD, MPH, who was doing genetic studies on the tissue and had lots of questions. Full story »
When you look at an apple, no matter what variety, on the surface you can be pretty sure it’s actually an apple. From there, you can make lots of assumptions about it, like how it will taste when you bite into it and what will happen if you plant the seeds in your yard.
With cancer, we can’t make those kinds of assumptions. While two tumors from the same location in two patients may look the same, doctors and researchers have come to recognize that their behavior and the mutations driving them can be radically different, as can their response to therapy.
With that recognition, physician/scientists like Scott Pomeroy, MD, PhD, the neurologist-in-chief at Boston Children’s Hospital, are taking a deeper look at the tumors they commonly see and asking whether what on the surface looks like one kind of tumor might actually be something completely different. Pomeroy in particular has applied this view to one of the biggest questions in pediatric cancer: Why do medulloblastomas, the most common malignant childhood brain tumor, behave so differently from child to child? Full story »
