Stories about: Information technology

Families and data scientists build insights on Phelan-McDermid syndrome

querying stacks of data

This is the third year that Jacob Works has made the trip down to Boston Children’s Hospital from Maine. With research assistant Haley Medeiros, he looks at pictures, answers questions, manipulates blocks and mimes actions like knocking on a door. His father, Travis, and another research assistant look on through a window.

“At first, we had to practically bribe him with an iPad with every task,” Travis says. “This year he’s more excited, because he understands more and is more confident and able to share more.”

Jacob, 11, was diagnosed in 2011 with Phelan-McDermid Syndrome, a rare genetic condition that typically causes children to be born “floppy,” with low muscle tone, and to have little or no speech, developmental delay and, often, autism-like behaviors. At the time, Jacob was one of about 800 known cases. But through chromosomal microarray testing, introduced in just the past decade for children with autism symptoms, more cases are being picked up.

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Giving voice a voice in health care

voice technology in healthcare

Physicians, like consumers in general, are increasingly embracing voice technology and smart home speakers. But does voice have a role in health care itself, beyond simple dictation of clinical notes? Boston Children’s Hospital is among those experimenting. The hospital’s Innovation and Digital Health Accelerator (IDHA) describes its learnings in an article published today by Harvard Business Review.

After hosting a Voice in Healthcare hackathon in various simulated clinical environments in 2016, IDHA ran three pilots with voice-based systems. In the intensive care unit, clinicians used voice as a hands-free way to get basic information, saving time while maintaining infection control standards. The pediatric transplant team used voice prompts to guide them through the pre-operative organ-validation and checklist process.

voice technology in health care Harvard Business ReviewThe third, longest-running pilot is in patients’ homes: Through KidsMD, parents have logged more than 100,000 interactions with Amazon’s voice assistant, Alexa, receiving personalized guidance around common illnesses like ear infections, fever and the common cold. More types of wellness and disease-specific “skills” are in the works to create true home health hubs.

Voice has its limitations, but in a Boston Children’s survey, only 16% of physicians stated they would not try voice.

Read more in HBR and check out IDHA’s portfolio.

 

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Digital doctoring, big data and AI: Five takeaways

digital health

Big data and artificial intelligence are reshaping our world. Earlier this month, at Computefest 2018, organized by the Institute for Applied Computational Science at Harvard University, held the symposium, “The Digital Doctor: Health Care in an Age of AI and Big Data.” Speakers were:

  • Finale Doshi-Velez, PhD, Assistant Professor of Computer Science, Harvard University
  • Matt Might, Director, Hugh Kaul Personalized Medicine Institute, University of Alabama at Birmingham
  • John Brownstein, PhD, Chief Innovation Officer and Director, Computational Epidemiology Lab, Boston Children’s Hospital
  • Marzyeh Ghassemi, PhD, Visiting Researcher, Google’s Verily; Postdoctoral Fellow, Computer Science and Artificial Intelligence Lab, Massachusetts Institute of Technology
  • Jennifer Chayes, Managing Director, Microsoft Research New England and New York City
  • Emery Brown, PhD, Professor of Medical Engineering and Computational Neuroscience, Massachusetts Institute of Technology

Here are Vector’s five takeaways from the symposium:

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News note: GIANT study homes in on obesity genes

obesity genes
Illustration: Elena Hartley

Yes, some obesity is due to genetics. The largest and most powerful study to date has pinned down 14 variants in 13 genes that carry variations associated with body mass index. They provide new clues as to why some people tend to gain weight and have more trouble losing it. Eight of the variants were in genes not previously tied to human obesity.

The study, published last month, was conducted by the Genetic Investigation of Anthropometric Traits (GIANT) consortium, an international collaboration involving more than 250 research institutions — the same group that brought us height-related genes last year. It combined genetic data from more than 700,000 people and 125 different studies to find rare or low-frequency genetic variants that tracked with obesity.

The study focused on rarer variants in the coding portions of genes, which helped pinpoint causal genes and also helped discover variants with larger effects that those previously discovered by the GIANT consortium. For example, carriers of a variant in the gene MC4R (which produces a protein that tells the brain to stop eating and to burn more energy) weigh 15 pounds more, on average, than people without the variant.

Computational analysis provided some interesting insights into what the 13 genes do. Some, for example, play a role in brain pathways that affect food intake, hunger and satiety. Other variants affect fat-cell biology and how cells expend energy.

This study provided an important confirmation of the role of the nervous system in body weight regulation,” says Joel Hirschhorn MD, PhD, a pediatric endocrinologist and researcher at Boston Children’s Hospital and the Broad Institute of MIT and Harvard, who co-led the study with Ruth Loos, PhD, of the Icahn School of Medicine at Mount Sinai. “Many of the genes from this study were not known to be associated with obesity, but our computational analysis independently implicates these new genes in strikingly similar neuronal pathways as the genes that emerged from our previous work. In addition, our approach newly highlighted a role for genes known to be important in ‘brown fat,’ a type of fat that burns energy and may help keep people lean.”

The researchers think the new findings could help focus the search for new therapeutic targets in obesity.  Read more in Nature Genetics and this press release from Mount Sinai.

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Science and medicine in 2018: What’s the forecast?

2018 predictions for biomedicine

Vector consulted its many informants to find out which way the wind will blow in 2018. Here are their predictions for what to expect in genetics, stem cell research, immunology and more.

GENETICS

Gene-based therapies mature

We will continue to see successes in 2018 reflecting the maturation of gene therapy as a viable, generalizable platform for curing many rare diseases. Also, we will see exciting new applications of other maturing platforms, like CRISPR/Cas9 gene editing and oligonucleotide therapies for neurologic diseases, building on the success of nusinersen for spinal muscular atrophy.

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Giving young organ transplant recipients a mobile reminder that might save their lives

Flow chart showing how the medication adherence app interacts with patients and a near-field-communication-enabled pillboxIn the U.S., more than 1,700 children receive organ transplants each year. Following transplantation, they must take immunosuppressants and steroids to protect their transplanted organ from being attacked by their own immune system.

But transplant teams know that kids are 60 percent more likely than adults to struggle with keeping a strict medication schedule. That puts the longevity of donated organs — and the lives of organ recipients — at unnecessary risk.

This challenge inspired a team of pediatric transplant experts at the Boston Children’s Hospital to develop a mobile application for smartphones that could serve as a portable reminder and a resource to support medication adherence.

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Can rare pain syndromes point the way to new analgesics?

analgesic drug discovery could reduce prescription opioid use
Boston Children’s Hospital and Amgen will collaborate to discover and accelerate non-addicting pain drugs.

As the opioid epidemic deepens and drug overdoses increase, effective non-addicting painkillers are desperately needed. Efforts to discover new pain pathways to target with new drugs have thus far had little success. Other promising research is investigating triggerable local delivery systems for non-opioid nerve blockers, but it’s still in the early stages.

A new collaboration between Boston Children’s Hospital and the biopharmaceutical company Amgen is aimed at accelerating new pain treatments. Announced yesterday, it will revolve around patients with rare, perplexing pain syndromes. The scientists hope that the genetic variants they find in these patients will shed new light on pain biology and lead to new ways of controlling pain. 

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What do hospitals want from prospective digital health partners?

how digital health startups can better approach hospitals
How digital health startups can better approach hospitals.

How can the growing number of digital health startups sell their products to large-scale healthcare enterprises? Earlier this year, Rock Health, a San Francisco-based venture fund dedicated to digital health, conducted 30-minute interviews with executives at multiple startups and a few large healthcare organizations. They identified several key sticking points: navigating the internal complexities of hospitals, finding the right buyer, identifying the product’s value proposition and relevance to the hospital and avoiding “death by pilot.”

Now, in a Rock Health podcast, John Brownstein, PhD, Chief Innovation Officer at Boston Children’s Hospital’s Innovation and Digital Health Accelerator and Adam Landman, MD, MS, MIS, MHS, Chief Information Officer at Brigham and Women’s Hospital and part of its Innovation Hub, offer further tips from the inside. They were hosted by Rock Health’s director of research, Megan Zweig.

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Dock Health’s shared ‘to do’ list for clinical teams — so basic, so necessary

Dock Health - a shared to-do list for clinical teams - could ease clinical burnout

While something as simple as a “to-do list” might seem trivial, a secure hub to store, prioritize and assign clinical and administrative tasks could be game-changing in healthcare.

Michael Docktor, MD, of Boston Children’s Hospital made this case yesterday at the Health 2.0 Conference in Santa Clara, Calif. He demonstrated Dock Health, a secure iOS mobile and web application that helps medical teams manage the numerous tasks that fall under clinical care. The idea was born in his gastroenterology practice at Boston Children’s and was incubated by the hospital’s Innovation and Digital Health Accelerator (IDHA).

“In an average day in clinic, I might see 15 patients and get 75 emails, 10 secure messages, three pages and five [electronic medical record] messages in my inbox,” Docktor writes on Medium. “Not too long ago, some emails were from frustrated colleagues, asking me to do something for a second or third time. Sadly, some were from parents of my patients, kindly reminding me that they were sitting in the lab waiting for the orders I forgot to place or trying to book their colonoscopy, for which I had forgotten to submit the form.”

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If I knew then what I know now: The need for infrastructure to enable precision medicine

precision medicine - closing the infrastructure loop
For precision medicine to happen, we need to be able to close the loop when genetic discoveries are made.

Catherine Brownstein, MPH, PhD, is scientific director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital. Kelsey Graber, MSc, is a research assistant in the Developmental Neuropsychiatry Program. Joseph Gonzalez-Heydrich, MD, is director of the Developmental Neuropsychiatry Program at Boston Children’s Hospital.

Research implicating rare genetic variants in medical and psychiatric diseases is quickly accumulating. This expanding knowledge should be taken into account when making treatment decisions for patients carrying these variants — as well as other family members — even when that knowledge comes after the patient is tested. But all too often, medical institutions are unable to go back and update the information given to families. We need a better infrastructure to enable precision medicine.

This problem recently surfaced in our psychiatry practice. It came to our attention because of a young boy with mild coordination delays and learning disabilities. At age 6, he started experiencing daily hallucinations such as voices telling him to kill his classmates.

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