Research

Gene therapy holds promise of a potentially safer, more effective path to a cure in infants born without the critical infection-fighting cells of the immune system.

Out of every 60,000 births, a baby arrives to face the world without a fully functioning immune system leaving them unequipped to fight even the most common infections. Children with this rare life-threatening genetic condition, known as severe combined immunodeficiency (SCID), have the best chance at a healthy future if they undergo a stem cell transplant before they are 3 ½ months old.

Seattle Children’s recently opened a clinical trial that is seeking a potentially safer, less aggressive and equally effective path to a cure by using a novel gene therapy to fix the faulty gene that causes the most common type of SCID.

On the Pulse met with the trial’s principal investigator, Dr. Aleksandra Petrovic, a pediatric transplant specialist and researcher at Seattle Children’s Research Institute’s Center for Immunity and Immunotherapies, to learn more about the experimental therapy available through this trial. Read full post »

Can a child’s neighborhood affect his or her weight status, diet, and activity level? According to new research published today in Obesity, the answer is yes.

Dr. Brian Saelens, a principal investigator at Seattle Children’s Research Institute who led the study, said children living in neighborhoods with favorable nutrition and activity environments, meaning the neighborhoods had at least one high quality park and were more walkable and there was access to healthy foods or less access to less healthy foods, continue to have lower rates of obesity when compared to children living in less favorable neighborhoods. Less favorable neighborhoods were defined as having no or lower quality parks and either no supermarket or a higher concentration of fast food restaurants. Read full post »

At Seattle Children’s, Emma received the correct diagnosis and treatment for her hemangioma.

Donna West remembers her daughter, Emma, being born with a mark on her face. Part of her right cheek was raised and dark purple, like a bruise. A dermatologist diagnosed the mark as a benign extravascular hemangioma, a term that is no longer used, and said not to be concerned. A hemangioma is a collection of extra blood vessels in the skin.

However, as years passed, the hemangioma grew larger and began to hurt. When Emma, now 11, would hang upside down in the playground, it would throb. If she coughed, the mark would get inflamed and shiny.

“When she would have a coughing spell from her asthma or a cold, the pain was like clockwork,” West said. “We were told it could go away, but that wasn’t happening.”

Until receiving care from Dr. Jonathan Perkins, clinic chief of vascular anomalies at Seattle Children’s, who performed surgery on Emma with the help of a new technique called facial nerve mapping, the family didn’t have an accurate diagnosis for the hemangioma or knowledge of treatment options. Read full post »

Rapid exome sequencing (rES), a blood test that can quickly detect genetic abnormalities, is helping obtain timely genetic diagnoses for critically ill children at Seattle Children’s.

A newborn boy was admitted to Seattle Children’s Neonatal Intensive Care Unit (NICU) earlier this year with arthrogryposis — a condition where an infant cannot move, their joints becoming frozen in place. When geneticist Dr. Jimmy Bennett met the infant, he was on a respirator and could only move his eyes.

“We didn’t know the cause of the arthrogryposis and could not tell the parents much about their son’s prognosis — whether he would ever come off the ventilator or if he would be intellectually disabled,” Bennett said. “With so little information, it was difficult to decide how to proceed.”

This family had a previous pregnancy that was similarly affected. Bennett believed the cause might be genetic and recommended rapid exome sequencing (rES) — a blood test that can quickly detect genetic abnormalities.

Less than a week later, the test identified a specific condition that led providers to administer an appropriate therapy. Before long, the child was moving.

“Never in a million years would we have tried this therapy without the genetic test results,” Bennett said. “Two weeks later, the patient was off the ventilator and moving all four limbs. It was like a miracle.” Read full post »

Dr. Doug Diekema, director of education in Seattle Children’s Treuman Katz Center for Pediatric Bioethics.

Providers often must negotiate with patients and families, but how should disagreements be addressed when the discrepancy is rooted in the patient’s culture or beliefs?

The Journal of the American Medical Association published an example of such a dilemma in 2008.

“Ms. R” was a 19-year-old woman who lived in the United States for several years while her parents lived abroad. She underwent an elective cranial surgery related to complications of a genetic syndrome.

The neurosurgical procedure was successful, and Ms. R seemed to be doing well until 10 days later when she complained of an acute, severe headache and quickly became unresponsive.

Ms. R had suffered an intracranial hemorrhage. Following repeated apnea tests, she was declared brain dead.

Because Ms. R’s parents had not been able to say goodbye, she was kept on a ventilator, pending their arrival.

Her father, who held Ms. R’s durable power of attorney for health care, arrived within 24 hours of the declaration of death. He requested the ventilator be continued and asked the provider to administer a traditional Chinese medicinal substance to Ms. R.

The father explained the substance is often used in his native country for a range of conditions, including coma. He asked the treating team to combine “the best of Western and Eastern medicine” to benefit his daughter.

Providers were unsure how to proceed. Should they comply with the family’s request, even though they felt certain it would not benefit the patient’s physical condition?

Read full post »

Representing about 70% of cleft lip and palate cases worldwide, non-syndromic cleft lip and palate typically occurs in isolation without other physical abnormalities.

A study conducted by an international research team, which included investigators from Seattle Children’s Research Institute, implicates variants in four genes as a primary cause of non-syndromic cleft lip and palate in humans. The genes, associated for the first time with cleft lip and palate, encode proteins that work together in a network, providing important insight into the biological basis of one of the most common physical malformations. Read full post »

Picturing her daughter making it to her first birthday was difficult for Rachael Rowe as she watched her baby struggle to survive each passing day waiting for a liver transplant.

Time officially took its toll on Feb. 6, 2018 — four months after 10-month-old Raylee was put on the transplant waiting list.

“I remember it was 3:00 a.m. in the morning when I heard Raylee screaming in pain,” said Rowe. “Never in my life had I heard a baby cry like that before. It was terrifying.”

After spending three hours trying to comfort her normally smiley and happy baby, Rowe took Raylee to the emergency room near their home in Portland, Oregon.

Read full post »

Brendan Bittinger, 9, was diagnosed with autism spectrum disorder using a team evaluation model developed at the Seattle Children’s Autism Center.

Some say ‘it takes a village to raise a child.’ At Seattle Children’s Autism Center, this concept came to life to a certain degree through the development of a collaborative method for diagnosing autism in children that aimed to improve the diagnostic process and increase efficiency, with the potential of leading to better patient outcomes.

Linda Bittinger’s 9-year-old son Brendan found his ‘village’ at the Autism Center in June 2017 when a team made up of providers from different disciplines came together for a thoughtful diagnostic evaluation that would shape his treatment path to progress.

“When we received his diagnosis, I felt a sense of optimism,” said Bittinger. “I had less worries knowing there were opportunities for treatment. And since then, he’s made tremendous strides.”

Read full post »

New research could pave the way for a rapid screening test capable of diagnosing submicroscopic malaria infections.

While the global health community has made great strides toward eradicating malaria through prevention and treatment strategies, rapid and inexpensive methods to diagnose submicroscopic malaria in individuals who have no clinical symptoms and undetectable levels of disease-causing parasites in their blood remain an unmet need.

With the unexpected discovery of a panel of peptides from several proteins encoded by the parasite that causes malaria, new research underway at Seattle Children’s Research Institute could pave the way for a rapid screening test capable of diagnosing submicroscopic infections.

Such a diagnostic test could permit the widespread screening of all individuals in high-risk regions – a practice global health experts agree is likely required to eradicate malaria. It could also provide a way to diagnose submicroscopic malaria infections during pregnancy, which bring substantial health risks for the pregnant woman, her fetus, and the newborn child. Read full post »

Dr. Lakshmi Rajagopal’s lab at Seattle Children’s Center for Global and Infectious Disease Research is studying how group B strep establishes an invasive in utero infection during pregnancy.

Group B strep (group B streptococcus or GBS) is a common bacteria present in the vagina of about 1 in 4 women. In the U.S. and other developed countries, pregnant women are tested for GBS with those who test positive given antibiotics to help protect babies from infection. In low resource settings where GBS testing and treatment is often not accessible, invasive GBS infection leads to a large percentage of still births and an estimated 3.5 million preterm births each year.

Despite the substantial impact on pregnancy outcomes, scientists know little about how GBS establishes an in utero infection. In a paper published in the Journal of Clinical Investigation, Dr. Lakshmi Rajagopal, a principal investigator in Seattle Children’s Research Institute’s Center for Global Infectious Disease Research describes a newly uncovered mechanism by which GBS gains access to a woman’s uterus. Read full post »