Designing from the bottom up: Guiding healthcare stakeholders through ideation

healthcare co-design

At a recent event, Michelle Domey, mother of a child with special health care needs, found herself sharing her experience with a design expert, describing recent telehealth appointments at Boston Children’s Hospital. “My son feels like he’s having a private appointment, even though I’m sitting next to him, and his doctor is miles away,” she reflected. “Who thought that was possible through a tablet or a computer?”

As adult patients nodded in agreement, the group began to think about how to leverage Michelle’s experience to design support systems for kids with special health care needs. A software engineer expanded Michelle’s comment into a vision of the classroom of the future — a learning environment fully equipped with remote learning solutions for children with special health care needs, and environmental sensors for children with severe food allergies and health risks. The Olin College Co-Design for Better Health Innovation Lab was well underway.

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Developing a startup: bringing your healthcare innovation to market

a digital health startup

Sixth and last in an on-going series of Innovator’s Roadmap posts from Boston Children’s Hospital’s Innovation & Digital Health Accelerator (IDHA). Matt Murphy is Innovation Lead at IDHA.

We recently provided guidelines for selecting a platform and developing a Minimal Viable Product to take your digital health innovation beyond the prototype stage and create meaningful iterations. Once a Minimum Viable Product has been developed, numerous commercialization pathways are available, such as licensing an innovation to an existing company. But for many innovators, the best path may involve forming a startup company.

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Discovering a rare anemia in time to save an infant’s life

Illustration of the erythropoietin hormone. A newly-discovered genetic mutation, which switches one amino acid in EPO's structure, resulted in two cases of rare anemia.
An illustration showing the structure of a cell-signaling cytokine called erythropoietin (EPO). It has long been thought that when EPO binds with its receptor, EPOR, it functions like an on/off switch, triggering red blood cell production. New findings suggest that this process is more nuanced than previously thought; even slight variations to cytokines like EPO can cause disease.

While researching a rare blood disorder called Diamond-Blackfan anemia, scientists stumbled upon an even rarer anemia caused by a previously-unknown genetic mutation. During their investigation, the team of scientists — from the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, the Broad Institute of Harvard and MIT and Yale University — had the relatively unusual opportunity to develop an “on-the-fly” therapy.

As they analyzed the genes of one boy who had died from the newly-discovered blood disorder, the team’s findings allowed them to help save the life of his infant sister, who was also born with the same genetic mutation. The results were recently reported in Cell.

“We had a unique opportunity here to do research, and turn it back to a patient right away,” says Vijay Sankaran, MD, PhD, the paper’s co-corresponding author and a principal investigator at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “It’s incredibly rewarding to be able to bring research full circle to impact a patient’s life.”

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Mining similarities in pediatric and canine bone cancer to help both children and pets

dogs aid fight against osteosarcoma

In March 2016, Ollie, a therapy dog at Boston Children’s Hospital, paid a bedside visit to 7-year-old Carter Mock. The pug and the boy had something in common: Both had lost limbs to the bone cancer osteosarcoma. Ollie’s left front leg had been amputated at the shoulder, while Carter had just had a new knee fashioned from his ankle in a procedure called rotationplasty.

Biologically, the osteosarcoma that dogs develop is remarkably similar to osteosarcoma in children and youths. The tumors develop primarily in the long bones, and the spread of tumor cells to the lungs represents the most significant threat and challenge. Similar chemotherapy agents are used in both dogs and human patients to kill residual cancer cells. Researchers are now mining these similarities in a quest for new treatments to benefit pets and people alike.

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News Note: Steroids could be counter-productive in severe asthma

severe asthma
Nine years old kid with allergic asthma, inhaling his medication through spacer while looking at with his wide opened eyes perhaps he is getting energy boost

Some 10 to 15 percent of people with asthma have severe disease that medications can’t control. A deep-dive multicenter study finds differences in these patients’ immune systems that may explain why increased dosages of corticosteroids don’t help — and could lead to steroids doing more harm than good. Findings appear online this week in Science Immunology.

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Transfusing engineered red blood cells to protect against autoimmune disease

Red blood cells, pictured here, could be engineered to protect against autoimmune disease
Transfusions of engineered red blood cells could help prevent and/or treat autoimmune disease.

Autoimmune disease is usually treated using general immunosuppressants. But this non-targeted therapy leaves the body more susceptible to infection and other life-threatening diseases.

Now, scientists at Boston Children’s Hospital, the Massachusetts Institute of Technology (MIT) and the Whitehead Institute for Biomedical Research think they may have found a targeted way to protect the body from autoimmune disease. Their approach, published in Proceedings of the National Academy of Sciences, uses transfusions of engineered red blood cells to re-train the immune system. Early experiments in mice have already shown that the approach can prevent — and even reverse — clinical signs of two autoimmune diseases: a multiple-sclerosis (MS)-like condition and Type 1 diabetes.

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7 digital health tips: Selecting a platform and developing a minimal viable product

digital health

Fifth in an ongoing series of Innovator’s Roadmap posts from Boston Children’s Hospital’s Innovation & Digital Health Accelerator (IDHA). Matt Murphy is Innovation Lead at IDHA.

We recently provided guidelines for developing prototypes of digital health products incorporating user-centered design and feedback from multiple sources. Let’s assume you’ve gone through multiple cycles of design updates, informed by your project goals and requirements, regulatory considerations and your long-term business or clinical strategy. Now, it’s time to select a technology platform and begin developing a fully functioning prototype of your innovation — your minimum viable product (MVP).

Below are some technical and tactical considerations to ensure your innovation’s long-term success and sustainability.

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Science Seen: Disrupted developmental genes cause ‘split brain’

split brain syndrome
The two halves of the brain on the right, from a patient with the DCC mutation, are almost completely disconnected. The mutation — first recognized in worms — prevents axons (nerve fibers) from crossing the midline of the brain by interfering with guidance cues. Image courtesy Ellen Grant, MD, director, Fetal-Neonatal Neuroimaging and Developmental Science Center.

Tim Yu, MD, PhD, a neurologist and genomics researcher at Boston Children’s Hospital, was studying autism genes when he saw something on a list that rang a bell. It was a mutation that completely knocked out the so-called Deleted in Colorectal Carcinoma gene (DCC), originally identified in cancer patients. The mutation wasn’t in a patient with autism, but in a control group of patients with brain malformations he’d been studying in the lab of Chris Walsh, MD, PhD.

Yu’s mind went back more than 20 years. As a graduate student at University of California, San Francisco, he’d conducted research in roundworms, studying genetic mutations that made the worms, which normally move in smooth S-shaped undulations, move awkwardly and erratically.

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Gene therapy: The promise, the reality, the future

gene therapy
(Graphs courtesy Alexandra Biffi, Dana-Farber/Boston Children’s Cancer and Blood Disorders Center)

Gene therapy stalled in the early 2000s as adverse effects came to light in European trials (leukemias triggered by the gene delivery vector) and following the 1999 death of U.S. patient Jesse Gelsinger. But after 30 years of development, and with the advent of safer vectors, gene therapy is becoming a clinical reality. It falls into two main categories:

  • In vivo: Direct injection of the gene therapy vector, carrying the desired gene, into the bloodstream or target organ.
  • Ex vivo: Removal of a patient’s cells, treating the cells with gene therapy, and reinfusing them back into the patient, as in hematopoietic stem cell transplant and CAR T-cell therapy.

A recent panel at Boston Children’s Hospital, hosted by the hospital’s Technology and Innovation Development Office (TIDO), explored where gene therapy is and where it’s going. Here were the key takeaways:

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Patients’ brain tissue unlocks the cellular hideout of Sturge-Weber’s gene mutation

A diagram of the skull and brain showing the leptomeninges, which is affected by Sturge-Weber syndrome
Sturge-Weber syndrome causes capillary malformations in the brain. They occur in the brain’s leptomeninges, which comprise the arachnoid mater and pia mater.

A person born with a port-wine birthmark on his or her face and eyelid(s) has an 8 to 15 percent chance of being diagnosed with Sturge-Weber syndrome. The rare disorder causes malformations in certain regions of the body’s capillaries (small blood vessels). Port-wine birthmarks appear on areas of the face affected by these capillary malformations.

Aside from the visible symptoms of Sturge-Weber, there are also some more subtle and worrisome ones. Sturge-Weber syndrome can be detected by magnetic resonance imaging (MRI). Such images can reveal a telltale series of malformed capillaries in regions of the brain. Brain capillary malformations can have potentially devastating neurological consequences, including epileptic seizures.

Frustratingly, since doctors first described Sturge-Weber syndrome over 100 years ago, the relationship between brain capillary malformations and seizures has remained somewhat unexplained. In 2013, a Johns Hopkins University team found a GNAQ R183Q gene mutation in about 90 percent of sampled Sturge-Weber patients. However, the mutation’s effect on particular cells and its relationship to seizures still remained unknown.

But recently, some new light has been shed on the mystery. At Boston Children’s Hospital, Sturge-Weber patients donated their brain tissue to research after it was removed during a drastic surgery to treat severe epilepsy. An analysis of their tissue, funded by Boston Children’s Translational Neuroscience Center (TNC), has revealed the cellular location of the Sturge-Weber mutation. The discovery brings new hope of finding ways to improve the lives of those with the disorder.

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