Clinical drug trial seeks to avoid liver transplant for LAL deficiency

(Image courtesy Ed Neilan)

neilan_edward_dsc9139Second in a two-part series on metabolic liver disease. Read part 1.

According to the American Liver Foundation, about 1 in 10 Americans have some form of liver disease. One rare, under-recognized disorder, lysosomal acid lipase (LAL) deficiency, can fly under the radar until it becomes life-threatening, often requiring a liver transplant. LAL deficiency currently has no specific treatment, but that may change thanks to combined expertise in genetics, metabolism and hepatology.

In recent years, Boston Children’s Hospital’s Director of Hepatology, Maureen Jonas, MD, and the Metabolism Program’s Edward Neilan, MD, PhD, diagnosed three children with LAL deficiency. All three are now enrolled in the first international LAL deficiency clinical trial, with Neilan serving as Boston Children’s principal investigator.

“LAL deficiency is currently under-diagnosed,” Neilan says. “We think the disease is more common than doctors have thought and now, with a treatment in trial, it is of greater importance to identify those patients so they may have better outcomes.”

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Transplant surgeon seeks to avoid transplants

First in a two-part series on metabolic liver disease. Read part 2.

Khashayar Vakili, MDIn the clinical world, Boston Children’s Hospital surgeon Khashayar Vakili, MD, specializes in liver, kidney and intestinal transplant surgeries, while in the lab he is doing work which, for some patients, could eliminate the need for a transplant surgeon altogether.

Vakili has been working at Boston Children’s for six years. During his transplant surgery fellowship, he spent several months learning about pediatric liver transplantation from Heung Bae Kim, MD, director of the Boston Children’s Pediatric Transplant Center, which prompted his interest in the field.

“When the opportunity to join the transplant team presented itself, I did not hesitate to accept,” he says.

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Early adversity and the brain: Bangladeshi children may provide lessons

neuroimaging adversity Bangladesh
Children from the neighborhood around the neuroimaging lab

Dhaka, Bangladesh, is a megacity, one of the world’s fastest growing. By 2025, the U.N. predicts, Dhaka will be home to more than 20 million people as rural migrants swell its population. Many residents live in extreme poverty, crowded into dense, hot, chaotic slums with open sewers and corrugated housing.

While traditional global health programs have focused on curbing infectious disease, low-resource settings like Dhaka are also coming to be seen as “living laboratories” for investigating how adversity affects children’s brain development. Last year, the Bill & Melinda Gates Foundation awarded a two-year, $2.5 million grant to Charles Nelson, PhD, to bring the first fully equipped neuroimaging facility to Bangladesh.

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Fruit flies’ love lives could clarify brain cells’ role in motivation

If you have children present, you might want to click out of this post. But if you want to understand motivation, you’ll want to know about the sexual behavior of fruit flies.

In the brain, motivational states are nature’s way of matching our behaviors to our needs and priorities. But motivation can go awry, and dysfunction of the brain’s motivation machinery may well underlie addiction and mood disorders, says Michael Crickmore, PhD, a researcher in the F.M. Kirby Neurobiology Center. “Basically, every behavior or mood disorder is a disorder of motivation,” he says.

It’s already known that brain cells that communicate via the chemical dopamine are important in motivation—and are also implicated in ADHD, depression, schizophrenia and addiction. But what exactly are these cells up to, and who are they talking to? That’s where fruit flies come in.

“We study motivation in a simple system that we can bash very hard,” says Crickmore.

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‘Huggable’ robot may ease kids’ hospital stress


Can a robotic talking bear have therapeutic value? “The Bear,” part of a New York Times video series called Robotica, offers a glimpse of Huggable’s potential when Beatrice Lipp, a child with a chronic medical condition, visits the hospital, nervous about what’s to come.

“We want to offer kids one more way of helping them to feel OK where they are in what’s otherwise a really stressful experience,” explains Dierdre Logan, PhD, director of Psychological Services for Pain Medicine at Boston Children’s Hospital.

Huggable, a creation of the MIT Media Lab’s Personal Robots Group and the Boston Children’s Simulator Program, comes into Beatrice’s room to chat, play games like “I Spy” and tell jokes. The session is recorded on video, and a bracelet called a Q Sensor collects Beatrice’s physiologic data–changes in skin conductance, temperature and motion that may indicate distress. Researchers at Northeastern University are analyzing these data to gauge the robot’s effect. Eventually, Huggable will be able to react to the data and respond accordingly—offering relaxation exercises and guided imagery, for example, if a child remains anxious.

Currently, Huggable is voiced by Child Life staff, but the ultimate goal is for it to work autonomously. Beatrice is part of a 90-child study comparing Huggable, an ordinary teddy bear and a tablet Huggable image.

I admit: My immediate thought on seeing Huggable was that kids would immediately see him (her?) as a fake, but the bear’s robotic nature doesn’t seem to faze them. As Logan says in the video:

I think there’s a way of connecting with kids that’s different than what grownups have to offer. They have incredible imaginations. And they can really suspend disbelief. There can be a true relationship that develops between Huggable and a patient.

See another child interacting with Huggable.

 

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Sun Hur, PhD: Overcoming barriers to reveal innate immunity’s secrets

Self-discovery is a theme that unites Sun Hur’s life and work. Growing up with a passion for physics, Hur pursued a scientific career in chemistry before launching her own research group in biology. Today, Hur, an investigator in Boston Children’s Hospital’s Program in Cellular and Molecular Medicine (PCMM), uses her considerable intellectual gifts to uncover how the immune system distinguishes self from non-self.

In the video above, produced by the Vilcek Foundation (which honors and supports foreign-born scientists and artists who have made outstanding contributions to society in the United States), Hur talks about her personal and scientific journey since coming to the U.S. from her native South Korea in 2000. Overcoming cultural and language barriers, she has turned her childhood fascination with order and chaos toward exploring how the innate immune system recognizes invaders, in particular disease-causing viruses that generate a double-stranded RNA during replication.

These studies, which could open doors to new treatments for cancer and inflammatory diseases, recently garnered her the Vilcek’s 2015 Prize for Creative Promise in Biomedical Science.

Adapted from announcements originally published by the Vilcek Foundation and the PCMM.

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My work, my life: Michael J. Docktor, MD

Michael J. Docktor, MD, Boston Children’s Hospital’s clinical director of Innovation and director of Clinical Mobile Solutions, is also a practicing gastroenterologist, a proud father of two and a passionate mobile-and-digital health trailblazer. An original co-founder of Hacking Pediatrics, Docktor’s goal is to bridge the gap between entrepreneurship, consumer technology, design and clinical pain points.

Hover over the images and icons in the photo below to learn more about Docktor’s professional and personal life, favorite gadgets and more.

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What we’ve been reading: Week of May 25, 2015

paszczak000/Flickr https://www.flickr.com/photos/paszczak000/3311707373/
(paszczak000/Flickr)

The White House draws the line against CRISPR/Cas9-designed embryos (FierceBiotechResearch)

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.”

Smartphones put medical diagnostics in your hands (Chemical & Engineering News)

Could smartphones help monitor disease outbreaks? Screen patients for cancer? Diagnose HIV? With the right attachments and data, the answer could one day be yes.

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The diagnostic odyssey: Parents shed light on their experience

the diagnostic journey
Robert Salmon: Storm at sea (Wikimedia Commons)

Nikkola Carmichael, MS, CGC, is a parent and a genetic counselor in the adult genetics clinic at Brigham and Women’s Hospital. Her research was conducted as part of her master’s degree in genetic counseling in conjunction with colleagues at Boston Children’s Hospital.

When a parent or provider first becomes concerned about a child’s development, a diagnostic odyssey begins. It may be brief or can stretch for years as a child undergoes multiple procedures and medical appointments in the search for a diagnosis.

This is a challenging time for families. While learning to address their child’s health needs and fearing for the future, parents may have difficulty accessing support services due to the lack of a diagnosis. Against this backdrop of emotional turmoil, parents strive to support their child through medical procedures that can be painful or frightening.

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Souped-up fish facility boosts drug discovery and testing

closeup of zebrafish-20150526_ZebraFishCeremony-60The care and feeding of more than 250,000 zebrafish just got better, thanks to a $4 million grant from the Massachusetts Life Sciences Center to upgrade Boston Children’s Hospital’s Karp Aquatics Facility. Aside from the fish, patients with cancer, blood diseases and more stand to benefit.

From a new crop of Boston-Children’s-patented spawning tanks to a robotic feeding system, the upgrade will help raise the large numbers of the striped tropical fish needed to rapidly identify and screen potential new therapeutics. It’s all part of the Children’s Center for Cell Therapy, established in 2013. We put on shoe covers and took a look behind the scenes. (Photos: Katherine Cohen)

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