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.
Although treatments for childhood cancer patients are improving, cancer remains the leading cause of death by disease in children. Doctors and researchers are also focused on decreasing the toxicity of these treatments, which can have side effects years after a child finishes treatment.
“What you can do in an environment where you have chemists, biologists, and clinicians adjacent and working collaboratively is very powerful,” says Stegmaier. “That’s why I’m here today—we need to cure 100 percent of kids, and we can’t do this alone.”
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.
“Emir is the star of the trial,” Sung-Yun Pai, MD—a Dana-Farber/Boston Children’s gene therapy and immunodeficiency transplant specialist and lead (along with David Williams, MD, and Luigi Notarangelo, MD) of the U.S. arm of the trial—tells our sister blog, Thriving. “He has the highest platelet count of all of the children who have gone through gene therapy with this vector so far. His immune function is excellent, and we have no worries whatsoever from a bleeding standpoint. He’s perfectly safe to play like a normal child.”
Reports from parents and a growing number of studies over the past 10 to 15 years suggest that children with autism spectrum disorder (ASD), especially more severe ASD, are prone to gastrointestinal disorders. Researchers have attributed the association to altered GI microbiota, abnormal intestinal physiology, immune alterations and other mechanisms. Some speculate that the connection results from unusual eating patterns in children with ASD.
Looking at IBD (Crohn’s and colitis) sets the bar a little higher, since IBD is uncommon and also unlikely to be caused by dietary factors (though it can certainly be aggravated by them). In a new study in the journal Inflammatory Bowel Disease, Kohane and colleagues crunched three large databases to create what they believe is the largest ASD/IBD study to date.
Four children with life-threatening malformations of blood vessels in the brain appear to be the first to benefit from 3D printing of their anatomy before undergoing high-risk corrective procedures.
The children, ranging from 2 months to 16 years old, all posed particular treatment challenges: cerebrovascular disease often entails complex tangles of vessels in sensitive brain areas.
“These children had unique anatomy with deep vessels that were very tricky to operate on,” says Boston Children’s neurosurgeon Edward Smith, MD, senior author of the paper and co-director of the hospital’s Cerebrovascular Surgery and Interventions Center. “The 3D-printed models allowed us to rehearse the cases beforehand and reduce operative risk as much as we could. You can physically hold the 3D models, view them from different angles, practice the operation with real instruments and get tactile feedback.”
I think my daughter Esmé is extraordinarily unique—from her tiny pudgy feet that she likes to stuff in her mouth to her beautifully lashed blue eyes and outrageously untamed hair. It’s a mom thing. I guess it is a symptom of loving another person more than life itself.
But my daughter is also unusual in a more scientific way: in her genes.
It’s 1 a.m. on a Wednesday. A two-year-old boy involved in a rollover automobile accident is brought into the emergency department at Boston Children’s Hospital. A scan shows fluid in his abdomen. He is becoming progressively unstable, his blood pressure plummeting despite blood transfusions. A decision is made to bring him to the operating room (OR), where a surgical team performs an exploratory laparotomy for a liver laceration and massive bleeding.
On July 13, 14 and 15, the entire seventh floor of the nearby Longwood Center became a theater, rooms with walls of cardboard became the stage, and hospital staff members became the actors. It was just one of many simulations—complete with cardboard transfusion machines, heart-lung machines and more—intended to help architects design ORs, procedure rooms, recovery rooms and other clinical spaces. These spaces will eventually make up a new 11-story, 445,000-square-foot hospital building. During the week, similar exercises also took place for a planned facility in Waltham.
Growing up in the San Francisco area, Cigall Kadoch, PhD, had a passion for puzzles. The daughter of a Moroccan-born, Israeli-raised father and a mother from Michigan who together developed an interior design business, Kadoch excelled in school and pretty much everything else. Above all, she loved to solve brain-teasers.
In high school, however, Kadoch came up against a problem that defied solution. Breast cancer took the life of a beloved family caretaker who had nurtured her interests in science and nature. She knew little about cancer except that it took lives far too early.
“I was deeply saddened and very frustrated at my lack of understanding of what had happened,” recalls Kadoch. “I thought to myself, cancer is a puzzle that isn’t solved, let alone even well-defined, and I want to try. As naïve a statement as that was, it was a defining moment—one which I never could have predicted would actually shape my life’s efforts.”