Ken Mandl, MD, MPH, director of the Boston Children’s Hospital Computational Health Informatics Program, is used to seeing the world through a different lens. In high school, he began clicking photographs with his camera and developing them in a darkroom in his basement. Now, he frames subjects through the lens of epidemiology and informatics—driving discovery and care transformation through big data, apps and large-scale federated research networks.
In my last post I explained the genetic testing process that led to my daughter Esmé receiving results of two mutations of unknown significance. One, on the gene PCDH19, was discovered in 2012 with the GeneDx infantile epilepsy panel. The other, on SCN8A, was found with whole exome sequencing, also through GeneDx, in 2014.
When we received the SCN8A result, I was fascinated by the notion that it would have been included in our original epilepsy panel had we only waited a handful of months. In fact, in the time since Esmé’s original test in 2012, almost 20 new genes have been added to the GeneDx Infantile Epilepsy panel.
Though Bruce Zetter, PhD, Charles Nowiszewski Professor of Cancer Biology in Boston Children’s Hospital’s Department of Surgery, has had a lifelong passion for science, he once toyed with an alternate career—as an actor. But he stuck with his love for science and pursued a career in academic medicine. Countless patients, students, business partners and mentees have benefitted from that decision.
Tests for detecting Ebola in the blood can take anywhere from 12 hours to four days to yield results. But a recent study published in The Lancet reveals that a new point-of-care test can accurately determine results in mere minutes—another step toward potentially controlling the spread of Ebola.
Nira Pollock, MD, PhD, senior author of the paper and associate medical director of the Infectious Diseases Diagnostic Laboratory at Boston Children’s Hospital, along with researchers from Harvard Medical School and Partners In Health, showed that a commercially developed rapid diagnostic test (RDT), called the Corgenix ReEBOV Antigen Rapid Test kit, was as sensitive as a conventional laboratory-based method used for clinical testing during the recent outbreak in Sierra Leone.
Why don’t these wounds close? Blame a perfect storm of diabetic complications, such as reduced blood flow, neuropathy and impaired signaling between cells. According to research by Denisa Wagner, PhD, of Boston Children’s Hospital’s Program in Cellular and Molecular Medicine, a poorly understood feature of our immune system’s neutrophils may be one more ingredient in the storm.
More than 100,000 smartphone apps are currently categorized as “health apps.” There are apps for physical health—apps that log work-outs, track nutritional intake, and monitor sleeping patterns. And there are apps for mental health—apps that identify your mood, guide meditation and alleviate depression. But can an app tackle a public health problem as serious as teen suicide?
Turns out, mobile phones and suicide prevention may not be such strange bedfellows.
Elizabeth Wharff, PhD, and Kimberly O’Brien, PhD, clinician-researchers from the Department of Psychiatry at Boston Children’s Hospital, specialize in working with adolescents who struggle with suicidal thoughts. Noting that teens are already turning to their phones whenever they need something, they believe a mobile app may be the perfect platform to support them through tough times. Wharff feels that existing apps designed to help with depression and anxiety lack something crucial: parent mode.
Responding to Chinese scientists’ attempt to use CRISPR gene editing technology to edit human embryos, the White House spoke up, saying, “altering the human germline for clinical purposes is a line that should not be crossed at this time.”
Seasonal Genes(The Scientist)
Our immune systems vary with the seasons, according to a study that could help explain why certain conditions such as heart disease and rheumatoid arthritis are aggravated in winter while people tend to be healthier in the summer.
Common vitamin reduces recurrence of some skin cancers(The Washington Post) Nicotinamide, a cheap over-the-counter vitamin, appears to reduce recurrence of some common skin cancers associated with sun exposure for people who have had them before, researchers at the University of Sydney report.
Allergies of all kinds—to food, pollen, pets, etc.—can be blamed on a kind of antibody called IgE. Cousins of the more common IgG, IgE antibodies work with immune cells called mast cells to trigger the symptoms we associate with an allergic reaction (itchy skin, runny nose, closing throat, etc.).
Edda Fiebiger, PhD, has been studying IgE and allergies for years, and has noticed a curious association in several epidemiologic studies: people with high levels of IgE in their blood (as in people with allergies) have a lower risk of certain cancers. This—and the discovery of human IgE antibodies that bind to tumor antigens—suggests that IgE may help protect the body from cancer, and has given rise to a whole new field dubbed AllergoOncology.
But how does it work? In a recent paper in Cell Reports, Fiebiger and her colleagues reveal a pathway by which IgE may keep watch for tumor cells, one that’s totally separate from its allergic role.