Research

All Articles in the Category ‘Research’

Scientist Brings First-Hand Perspective to Fight Against Malaria

Drs. Nana Minkah (back) and Deba Goswami are working with their Kappe Lab colleagues to develop a vaccine for malaria.

Growing up in Ghana, a sub-Saharan country on the west coast of Africa, Dr. Nana Minkah, a scientist at the Kappe Lab, endured the unenviable “rite of passage” contracting malaria multiple times as a child.

While he doesn’t remember the early years when the associated high fever caused hallucinations, he has distinct memories of later bouts when he was bedridden for more than a week with pain and chills so bad his body visibly shivered.

The multiple malaria infections Minkah endured in his youth is common to those living in sub-Saharan Africa where the mosquito-transmitted parasitic infection is one of the deadliest diseases in human history. Despite tremendous attempts to rid the world of the malaria pathogens, it continues to sicken hundreds of millions and kills nearly half a million people each year. Malaria’s biggest toll is on children and pregnant women in developing countries.

That’s why, after Minkah completed his Ph.D. in Molecular Genetics and Microbiology, he joined the Kappe Lab in 2015. Although he had no experience in parasitology, he wanted to work on malaria — a disease that continues to plague his homeland.

“I wanted to do work that has clinical implications with the potential to save the lives of people who look like me,” Minkah explained. Read full post »

Scientists Find Clues to Rare Mutation Hours After Toddler’s Brain Surgery

At 5 months old, Tyler Cassinelli, now 3, was battling both liver cancer and intractable epilepsy. When he was at Seattle Children’s preparing to undergo cancer treatment, Tyler had a seizure that stopped his breathing.

“It was one of the scariest moments of my life,” said Jane Cassinelli, Tyler’s mother. “We could see his stats on the monitor dropping, and doctors came rushing in.”

Doctors quickly intubated and revived Tyler. Five months later, his cancer was in remission. However, he continued to have unpredictable and life-threatening seizures that multiple medications failed to stop.

Genetic testing revealed that Tyler had a mutation of the HCN1 gene. Children with this rare abnormality are at risk for traumatic epilepsies, said Dr. Nino Ramirez, director of the Center for Integrative Brain Research.

“It was difficult to hear that Tyler was expected to have a lifetime of hard-to-control seizures due to a genetic disorder,” said Cassinelli.

In addition to the mutation, Tyler had a brain malformation called focal cortical dysplasia, a common cause of intractable epilepsy. Testing showed Tyler’s seizures were coming from an area on the left side of his brain. Brain surgery to address the problematic lesion could help, and what’s more, his brain could also enable researchers to unlock some of the mysteries of the genetic mutation.

“Tyler’s situation was unique and extremely desperate,” said Ramirez. “There is great clinical interest worldwide in better understanding the HCN1 mutation, and Tyler’s brain could provide a rare window into its role in epilepsy.” Read full post »

Doctor Creates Virtual Reality Simulation to Save Babies’ Lives

Trainees in Africa participate in a pilot study of a virtual reality simulation that teaches care providers how to care for a newborn unable to breathe on their own.

Wanting to do something different to address the alarmingly high number of newborn deaths in low income countries, Dr. Rachel Umoren, a neonatologist at Seattle Children’s, turned to virtual reality (VR).

As mobile phone-based VR programs became increasingly accessible, Umoren thought the emerging technology could offer a better way to equip health care providers with the skills necessary to save babies’ lives in low- and middle-income countries with high neonatal mortality rates.

Her case was compelling: with mobile VR training, providers could learn and easily maintain new skills at their own convenience, on their own smartphone, and with game-based automated feedback that is ideal for learning. With its on-demand availability, she believed mobile phone-based VR training could effectively translate into clinical practice better than current training methods.

“Mobile technologies are ubiquitous in low and middle income countries, yet they are relatively untested at disseminating health care information or training in these settings,” Umoren said. “I wanted to see how we could apply innovations in virtual reality to address the pressing issue of neonatal mortality.” Read full post »

HIV Protection for Infants May Come From Breastfeeding and the Gut

Scientists at Seattle Children’s Research Institute are investigating how an infant’s microbiome may offer protection from HIV infection. (Photo by Getty Images)

Every year, over 1.2 million people continue to be infected by HIV. Of these, about 160,000 are infants that contract the virus from their mother. Without treatment, a third of these infants die by their first birthday, and half of them do not make it to age 2.

Thanks to programs that identify and treat HIV-infected mothers and children, the number of deaths in children has decreased nearly 50% since 2010. Despite this success, HIV infections in infants remain persistent primarily because not all mothers know if they are infected or, for a variety of reasons, are unable to adhere to taking the antiretroviral medications they need to prevent transmission.

To close the gap, scientists at Seattle Children’s Research Institute are looking for new clues in an important indicator of overall infant health – a baby’s developing immune system and microbiome. Ongoing research not only examines how an infant’s microbiome can evolve to help protect against HIV infection, but also what factors, such as diet, alter an infant’s susceptibility when exposed to HIV through their mother’s breast milk. Read full post »

Smoking During Pregnancy Doubles the Risk of Sudden Unexpected Infant Death, Study Warns

A new study finds that any amount of smoking during pregnancy – even just one cigarette a day – doubles the risk of an infant dying from sudden unexpected infant death. (Photo by Getty Images)

The first findings to result from a collaboration between Seattle Children’s Research Institute and Microsoft data scientists provides expecting mothers new information about how smoking before and during pregnancy contributes to the risk of an infant dying suddenly and unexpectedly before their first birthday.

According to the study published in Pediatrics, any amount of smoking during pregnancy – even just one cigarette a day – doubles the risk of an infant dying from sudden unexpected infant death (SUID). For women who smoked an average of 1-20 cigarettes a day, the odds of SUID increased by 0.07 with each additional cigarette smoked.

“With this information, doctors can better counsel pregnant women about their smoking habits, knowing that the number of cigarettes smoked daily during pregnancy significantly impacts the risk for SUID,” said Dr. Tatiana Anderson, a researcher in Seattle Children’s Center for Integrative Brain Research and lead author on the study. “Similar to public health campaigns that educated parents about the importance of infant sleep position, leading to a 50% decrease in sudden infant death syndrome (SIDS) rates, we hope advising women about this risk will result in less babies dying from these tragic causes.”

If no women smoked during pregnancy, Anderson and her co-authors estimate that 800 of the approximately 3,700 deaths from SUID every year in the U.S. could be prevented, lowering current SUID rates by 22%. Read full post »

New Drug Trial Gives Hope for Treatment-Resistant Epilepsy

Shanahan “Shanny” Dameral, 19, recently participated in a clinical trial at Seattle Children’s investigating a new drug for children with treatment-resistant epilepsy.

For the first time in his life, Shanahan “Shanny” Dameral, 19, has a girlfriend. Soon, he’ll be graduating with a high school diploma and looking for his first job on the Kitsap Peninsula.

What seems routine for many is a big deal for Shanahan and other children living with treatment-resistant or intractable epilepsy. For reasons largely unknown, seizures in this subset of children persist long past their discovery in early childhood despite being treated with multiple medications and undergoing surgery to remove the affected parts of their brain.

Diagnosed with epilepsy at age 5, life for Shanahan has always come with seizures attached. When his seizures returned after a second brain surgery shortly after his 16th birthday, his mom Linley Allen, hoped for a medical breakthrough.

“We needed to find something else since another surgery was out of the question,” Allen said. “We had heard about a drug being studied for a more severe seizure condition. I kept holding onto hope that it might be expanded to treat Shanny’s type of seizures because it was all we had at the time.”

Then last year, Shanahan’s longtime neurologist at Seattle Children’s, Dr. Russell Saneto, told the family about a phase 1 trial of an experimental therapy known as Nab-rapamycin (ABI-009) for patients with intractable epilepsy at Seattle Children’s.

“Dr. Saneto has always pushed for better ways to treat Shanny’s seizures, and even after he explained that this trial was early in the research process, Shanny popped right up and asked, ‘When do we start?’” said Allen. “I was like, ‘Shanny, this is going to be a couple of years out,’ so we were both surprised when Dr. Saneto said, ‘No, you can start next month.’” Read full post »

Lighting the Way for Children With Brain Tumors

Danica Taylor, 3, has undergone treatment at Seattle Children’s for an aggressive, very rare type of brain tumor known as atypical teratoid rhabdoid tumor, or ATRT.

Recalling the treatments her daughter has had over the past year for an aggressive, very rare type of brain tumor known as atypical teratoid rhabdoid tumor, or ATRT, Audrey Taylor says it’s like watching a game where your favorite sports team keeps losing and then regaining the lead.

“There are so many times when you feel like you totally got this, followed by moments where you’re not really sure what’s going to happen next,” she said.

Diagnosed with ATRT at 21 months old, Danica Taylor, now 3, has endured multiple rounds of chemotherapy, stem cell transplants, two brain surgeries, laser ablation and proton beam radiation therapy to try to stop the fast-growing tumor.

Danica remained strong through it all.

“She’s just the bravest and toughest kid I know,” Taylor said. “Whenever I have to do something hard, I summon my inner Danica.” Read full post »

Study Could Help Predict Aneurysm Risk for Kids with Kawasaki Disease

In honor of National Kawasaki Disease Awareness Day on January 26, we are sharing the story of Olivia, a 9-year-old who lives with the disease. Research at Seattle Children’s aims to improve life for children with this condition who are at risk for aneurysms.

When Olivia Nelson was 3 years old, her parents noticed that she had a fever that wouldn’t get better. They brought her to a nearby hospital, where she spent about two weeks being screened for diseases. As doctors tried to find a diagnosis, a lymph node on Olivia’s neck became swollen. Alarmed and wanting an answer, the Nelsons asked to transfer to Seattle Children’s.

“It was very frustrating,” said Olivia’s father, Trevor Nelson. “She was in the hospital for two weeks in and out, and they still couldn’t figure out what was happening.”

Soon after the family arrived at the hospital, Olivia was diagnosed with Kawasaki disease, a serious inflammatory condition affecting the eyes, lips, hands and coronary arteries. The disease affects about 7,000 children in the U.S. each year. Though the family was relieved to have a correct diagnosis, they learned Olivia had developed coronary aneurysms, the enlargement of her coronary arteries due to the persistent inflammation.

A new study funded by the National Institutes of Health (NIH) could improve the quality of life for children with Kawasaki disease at risk of developing coronary artery aneurysms like Olivia did. Dr. Michael Portman, a cardiologist at Seattle Children’s Heart Center Kawasaki Disease Clinic and researcher at Seattle Children’s Research Institute, hopes to find genetic biomarkers that will predict which patients will not respond to the standard treatment and thus have a higher risk of developing coronary artery problems.

“Olivia will have lifelong issues related to her heart and coronary arteries,” said Portman. “It’s a shame that a 9-year-old has severe heart disease that might have been prevented had we had ways to quickly diagnose and treat her disease effectively.” Read full post »

Secret to Sepsis May Lie in Rare Cell

Seattle Children’s researchers studying how the immune system responds to the early stages of a sepsis infection show how a rare type of immune cell called basophils (represented by dark purple) arrive at the infection site 24 hours after sepsis is induced in the lab.

In a paper published in Nature Immunology, scientists from Seattle Children’s Research Institute reveal how a rare group of white blood cells called basophils play an important role in the immune response to a bacterial infection, preventing the development of sepsis. Researchers say their findings could lead to better ways to prevent the dangerous immune response that strikes more than 30 million people worldwide every year.

“Sepsis is the number one killer of children globally, yet little is known about what goes wrong in an individual’s immune system to cause sepsis as it fights off an infection,” said Dr. Adrian Piliponsky, a principal investigator in the research institute’s Center for Immunity and Immunotherapies. “Without this information, it’s hard to predict who will develop sepsis or explain why sepsis causes a range of immune responses in different individuals.” Read full post »

New Findings on Concussion in Football’s Youngest Players

As a naturally-talented quarterback and cornerback for the Northwest Junior Football League’s North Creek Jaguars, Andrew Ronneberg, 14, participated in the study led by researchers from Seattle Children’s Research Institute exploring concussion in football players ages 5-14.

New research from Seattle Children’s Research Institute and UW Medicine’s Sports Health and Safety Institute found concussion rates among football players ages 5-14 were higher than previously reported, with five out of every 100 youth, or 5%, sustaining a football-related concussion each season.

Published in The Journal of Pediatrics, the study summarizes the research team’s key findings from data collected during two, 10-week fall seasons in partnership with the Northwest Junior Football League (NJFL). Licensed athletic trainers from Seattle Children’s treated and recorded concussion from the sidelines at NJFL games to allow researchers to characterize concussions in this age group – from how often players sustained a head injury to factors that influenced their risk of injury.

“Measuring the incidence of concussion in grade-school and middle-school football players is essential to improving the safety of the game,” said Dr. Sara Chrisman, an investigator in the research institute’s Center for Child Health, Behavior and Development and lead author on the study. “It’s hard to determine the impact of prevention efforts if we don’t know how often these injuries occur at baseline.” Read full post »