Exome sequencing comes to the clinic (JAMA)
An approachable and thorough summary of the growing trend, describing the ways in which sequencing can help provide a diagnosis, the diagnostic yield (as high as 40 percent or more, depending on the population), how often the results have changed treatment decisions and the question of who pays.
Who Owns CRISPR? (The Scientist)
Excellent coverage of the escalating patent scramble for genome editing.
(Clockwise from top: T3, Surgical Sam, non-electric baby warmer, silk-based organ reconstruction)
Next week—on April 15—Boston-area visitors can sample inventions and technologies from around Boston Children’s Hospital, some in development and some already in use. More than 20 medical innovations will be on display in an interactive “science fair” format. We’ll be demonstrating a variety of medical devices, mobile applications, software IT innovations, wearables and bioengineering innovations. It’s free and open to the public.
Can sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the potential risks and harms? How should DNA sequencing information be integrated into patient care?
Device developers tend to focus on the FDA approval process—PMAs and 510(k) clearances—while overlooking another major challenge: getting insurers to cover the device. Before approaching investors, and certainly before doing any studies, keep payers in mind, advises Maren Anderson, president of MDA Consulting, Inc., which specializes in reimbursement planning.
In the old days, doctors prescribed, and insurers paid. Under health care reform, that’s changed, says Anderson.
Last week was a good week for neuroscience. Boston Children’s Hospital received nearly $2.2 million from the Massachusetts Life Sciences Center (MLSC) to create a Human Neuron Core. The facility will allow researchers at Boston Children’s and beyond to study neurodevelopmental, psychiatric and neurological disorders directly in living, functioning neurons made from patients with these disorders.
Patient-derived neurons are ideal for modeling disease and for preclinical screening of potential drug candidates, including existing, FDA-approved drugs. Created from induced pluripotent stem cells (iPSCs) made from a small skin sample, the lab-created human neurons capture disease physiology at the cellular level in a way that neurons from rats or mice cannot.
Back in the day, the 1980s to be specific, there was a brief fad around amber-on-black computer screens (as opposed to green-on-black or white-on-black) for supposed ergonomic reasons. My computer had one, along with its 5 ¼” floppy drives (remember those?).
More recently, with kids texting at night and people logging late hours on computers and devices, there’s been a recognition that artificial light at night is bad for sleep and disruptive to physiology overall, with blue light increasingly recognized as the culprit.
That’s given birth to some new fads. You can now download programs to eliminate blue light from your computer screen at night or buy amber-tinted glasses for computing and gaming to “filter the harsh spectra” of light. Airlines are using “mood” lighting to mimic sunrises and sunsets, which supposedly reduces jetlag.
In a paper in Neuron last week, Alan Emanuel and Michael Do, PhD, of the F.M. Kirby Neurobiology Center at Boston Children’s Hospital and Harvard Medical School provide some science to support and inform these fads, as well as the use of light therapy for conditions like seasonal affective disorder.
Internet of DNA (MIT Technology Review)
Emerging projects in Toronta, Santa Cruz and elsewhere are working toward being able compare DNA from sick people around the world via the Internet to identify hard-to-spot causes of disease—analogous to using the “Compare documents” function in Word.
Engineering the perfect baby (MIT Technology Review)
Since the birth of genetic engineering, people have worried about designer babies. Now, with gene editing and CRISPR, they might really be possible. Bioethicists and scientists weigh in on what “germ line engineering” would mean.
The collection of bacteria and other microorganisms living in our intestines—our microbiota—is now understood to play an important role in our physiology. Recent research indicates that it helps regulate our metabolism, immune system and other biological processes, and that imbalances in the microbiota are associated with everything from inflammatory bowel disease to diabetes.
Seth Rakoff-Nahoum, MD, PhD, wants to take this understanding to a new level. An infectious disease clinical fellow at Boston Children’s Hospital, he has systematically probed how genetics interact with environment—including the microbiota—to shape intestinal biology during different stages of development.
His investigations provide interesting clues to disorders that have their origins early in life, ranging from necrotizing enterocolitis in newborns to Hirschsprung’s disease (marked by poor intestinal motility) to food allergies.
About a third of children with epilepsy do not get better with drug treatment. Many physicians are inclined to try additional drugs to control the seizures—and there are many to choose from. However, analysis of data from tens of thousands of patients suggests that if two or more well-chosen drugs have failed, and surgery is a safe option, there’s no benefit in holding off.
The decision analysis, published in the February issue of Epilepsia, found that average life expectancy was more than five years greater when eligible children had surgery rather than prolonged drug treatment. And children spent more of their lives seizure-free.
Although clinical guidelines currently do call for earlier surgery, physicians tend to use it as a last resort—even when brain-mapping studies indicate that it’s unlikely to endanger vital brain structures.
Evolution is a strange thing: sometimes it favors keeping a mutation in the gene pool, even when a double dose of it is harmful—even fatal. Why? Because a single copy of that mutation is protective in certain situations.
A classic example is the sickle-cell mutation: People carrying a single copy don’t develop sickle cell disease, but they make enough sickled red blood cells to keep the malaria parasite from getting a toe-hold. (Certain other genetic disorders affecting red blood cells have a similar effect.)
Or consider cystic fibrosis. Carriers of mutations in the CFTR gene—some 1 in 25 people of European ancestry—appear to be protected from typhoid fever, cholera and possibly tuberculosis.