Research

All Articles in the Category ‘Research’

New Gene Sequencing Technology Opens Door to Faster Diagnoses

Kaylyn Milligan and her son, Owen. Milligan lost two babies due to a genetic mutation she didn’t know she had. After a careful review of her genome, Dr. James Bennett was able to identify the mutation and Milligan was able to make educated family planning decisions.

There are times when a child comes to the hospital with symptoms and even after a thorough exam and many tests, doctors can have a difficult time making a diagnosis. Now, doctors and researchers at Seattle Children’s have a new tool that will be key in finding answers for patients and their families: A next generation gene sequencer that can be used to sequence DNA quickly and make diagnoses in complex cases.

The machine, an Illumina NextSeq, can sequence all of the genes in the human genome in just 24 hours. The enormous amount of data generated by this machine will be processed using the PierianDx analytical pipeline.

“This new technology will dramatically decrease the cost of gene sequencing for our patients and will help us make quicker diagnoses, especially in complicated cases,” said Dr. James Bennett, a geneticist and researcher at Seattle Children’s Hospital and Seattle Children’s Research Institute. “Families can sometimes go years without a diagnosis. Now, we’ll be able to provide more answers and identify potential therapies based on what we find in the genome.” Read full post »

Seattle Children’s Joins Largest Autism Research Study in U.S.

Dr. Raphael Bernier is helping launch a web-based registry with DNA analysis to accelerate autism research and speed discovery of treatments.

Dr. Raphael Bernier is helping launch a web-based registry with DNA analysis to accelerate autism research and speed discovery of treatments.

Researchers know that certain genes are linked to autism spectrum disorders — scientists have identified about 50 genes, and they estimate an additional 300 or more are also involved.

Pinpointing these genes is difficult, but it could be the key to understanding the cause of a disorder that affects 1 in every 68 children in the U.S., according to the Centers for Disease Control and Prevention. One child’s diagnosis of autism and the gene that contributed to it will likely be completely different than another child’s diagnosis and genetic influences. Now, a nationwide study will create the largest bank of autism genes in the country that researchers can contribute to and use in research.

Seattle Children’s Autism Center is helping launch the web-based registry with DNA analysis to accelerate autism research and speed discovery of treatments. The SPARK study, sponsored by the Simons Foundation Autism Research Initiative, encompasses 21 leading national research institutions doing autism research.

“When we work to identify genes that cause autism, we need a huge number of individuals diagnosed with autism because each genetic event that leads to autism is rare,” said Dr. Raphael Bernier, a researcher and clinical director of Seattle Children’s Autism Center. “This large registry allows us to identify genetic trends. Once we know which genes to focus on, we can look at more individualized treatments for the future.” Read full post »

Doctor Partners On SIDS Newborn Hearing Study To Investigate Link To Inner Ear Damage

Jon Stephenson died of SIDS when he was 3 months old. His parents, Melissa French-Stephenson and David Stephenson, founded Jon’s Run, which donated $20,000 to support SIDS research by Seattle Children’s anesthesiologist Dr. Daniel Rubens.

Melissa French-Stephenson and David Stephenson know the devastation of losing a baby to Sudden Infant Death Syndrome (SIDS). In 2002, they lost their 3-month-old, Jon, to SIDS while he was at daycare. He was their first baby.

“We were late to daycare because he was in such a good mood that morning and we spent some time playing,” French-Stephenson said. “We have a video from earlier that week where he is laughing, smiling and kicking.”

The Stephensons, who live in San Antonio, Texas, now have two healthy boys, but they wanted to honor Jon’s legacy. They founded Jon’s Run, an organization that hosts a yearly 5K run that supports families who have lost a baby or young child and raises money for SIDS research.

“When you lose a baby to SIDS, you feel like they never had a chance to get started in life,” French- Stephenson said. “We were devastated when we lost Jon and felt it was important to bring other parents together who had lost a child to SIDS, or from any cause, to support each other in their grief.”

The Stephensons are committed to advancing SIDS research and Jon’s Run recently donated $20,000 to support a study by Dr. Daniel Rubens, an anesthesiologist at Seattle Children’s Hospital and principal investigator at Seattle Children’s Research Institute. Rubens will investigate a possible association between SIDS and hearing abnormalities in newborns.

“We’re excited to support Dr. Rubens’ work and hope answers come from this research,” French-Stephenson said. Read full post »

A Steady Diet of Data to Keep Refugee Kids Healthy

Dr. Beth Dawson-Hahn (left) and Dr. Anisa Ibrahim (right) study refugee children and nutrition.

Dr. Anisa Ibrahim was 6 in 1993 when her family came to Seattle from Somalia, driven from their country by civil war. In the beginning, everything about their new country was exciting and confusing — especially the supermarket.

“We were used to going to the market every day to buy fresh food,” recalls Ibrahim, now a third-year resident in pediatrics at Seattle Children’s. “It was hard to transition to buying bags and boxes of food in bulk.”

Foods the family relied on back home — like goat and guava — were not readily available. And snacks Ibrahim’s classmates pulled out of their lunchboxes — like cheese and Chex mix — were completely unfamiliar.

Unlike some refugees, Ibrahim and her siblings were healthy and well-nourished when they arrived. And thanks to her mom’s skill at cooking and adaptation, says Ibrahim, they stayed that way as they learned their way around the new food landscape.

As a doctor, Ibrahim wants to ensure other families can do the same. That’s why she carved out time during residency to work with Dr. Beth Dawson-Hahn, a pediatrician and research fellow in the Center for Child Health, Behavior and Development at Seattle Children’s Research Institute, who is studying refugee children and nutrition. Read full post »

Sleepy Time: Researcher and New Mom Explains Why Good Sleep Habits Are Important for Child Development

Dr. Michelle Garrison is a new mom and public health researcher the Center for Child Health, Behavior and Development at Seattle Children’s Research Institute where she studies sleep.

I’m a new mom of a 4-month-old boy, and it’s giving me a new perspective on my work. Some new parents might be surprised to know that we are both getting pretty good sleep these days. I have researched child sleep, health and development for years, and now with my baby I am putting what I’ve learned into practice, especially when it comes to helping my son develop healthy sleep skills.

I study sleep issues in infants all the way to adolescents. As my son grows, I will help him as a preschooler through night terrors, change bedtime routines to meet the needs of an elementary school boy, and deal with the growing independence of the teenage years and the bedtime struggles that smartphones and tablets can bring. Read full post »

Researchers Work Toward New Type 1 Diabetes Therapies For Patients Like Juliana

Juliana Graceffo, 11, has type 1 diabetes. She must test her blood sugar throughout the day and take carefully calculated doses of insulin.

Children with type 1 diabetes and their families have to do several calculations throughout the day to stay healthy. Did my daughter check her blood sugar before breakfast? Does she need an extra snack because she has gym class? Is there someone at school to help my child check her blood sugar?

Type 1 diabetes is an autoimmune disease that injures the insulin-producing cells in the pancreas and leads to a lifelong requirement of daily insulin injections. It is a considerable burden of care on patients and parents, who effectively never get a rest from the demands of staying healthy and safe.

According to the American Diabetes Association, about 1.25 million Americans have type 1 diabetes. A new $1 million grant from The Leona M. and Harry B. Helmsley Charitable Trust will get doctors and scientists at Seattle Children’s Research Institute one step closer to better treatment for type 1 diabetes by studying the use of immunotherapy to treat the condition. The work is in collaboration with researchers at Benaroya Research Institute at Virginia Mason (BRI)Read full post »

Study Shows College Students More Likely to Post About Alcohol on Facebook

A study by Dr. Megan Moreno found that 76% of the college students displayed alcohol references on Facebook, compared to just 34% who posted about alcohol on Twitter.

It’s spring break season, and that means many college students across the country will shift their focus from the classroom to having fun. Sometimes those spring break plans can include attending parties where alcohol is present, which can lead to concerning and excessive alcohol consumption. In fact, alcohol is the most commonly used substance by college students, and rates of problematic drinking are higher among college students than compared to their non-college peers.

A new study by Dr. Megan Moreno from Seattle Children’s Research Institute in the Journal of Adolescent Health shows that college students are more than twice as likely to post about alcohol on Facebook than on Twitter.

The study provides researchers, school administrators and parents with valuable information on how to study and monitor social media for concerning alcohol consumption.

“This work illuminates new approaches for social media researchers and can help us understand where young people post different types of social media content,” said Moreno. Read full post »

New Research Links Zika Virus to Brain Defects

This image compares the brain of a baby that has developed normally (top), the brain of a baby that has developed primary microcephaly (middle), and the brain of a baby from Brazil whose mother contracted Zika virus during her pregnancy (bottom). The bottom image indicates several abnormalities, including a severe reduction in brain size, excess fluid around the brain (external hydrocephalus) and calcifications in the brain tissue that indicate abnormal brain development. IMAGE CREDIT: Dr. Lavinia Schuler-Faccini, Genetics Department, Federal University in Porto Alegre, Brazil.

This image compares the brain of a baby that has developed normally (top), the brain of a baby that has developed primary microcephaly (middle), and the brain of a baby from Brazil whose mother contracted Zika virus during her pregnancy (bottom). The bottom image indicates several abnormalities, including a severe reduction in brain size, excess fluid around the brain (external hydrocephalus) and calcifications in the brain tissue that indicate abnormal brain development. IMAGE CREDIT: Dr. Lavinia Schuler-Faccini, Genetics Department, Federal University in Porto Alegre, Brazil.

New research out today in the journal Cell Stem Cell indicates a likely link between the Zika virus and abnormal brain development. Scientists are studying if the spread of Zika by mosquitoes in Latin America is linked to the increased rates of microcephaly, a condition in which babies are born with unusually small heads. The study was conducted by researchers at the Johns Hopkins University School of Medicine, Florida State University and Emory University.

Dr. William Dobyns, a pediatric neurogeneticist at the Center for Integrative Brain Research at Seattle Children’s Research Institute who treats and studies microcephaly, sat down with On the Pulse to discuss the new research published today.

Q: Does this new study published today indicate a link between the Zika virus and microcephaly in newborns?

Dobyns: The scientists who did this work confirmed that when developing brain cells are exposed to the Zika virus, it interferes with normal brain development.

The scientists studied what would happen if neural stem cells, which are the basic building blocks of a developing brain, were exposed to the Zika virus. These neural stem cells give rise to neurons and provide the scaffolding that allows the rest of the brain to develop properly. When neural stem cells do not develop normally, it interferes with brain development.

The paper showed that the 90% of neural stem cells exposed to Zika were infected and began to make copies of the virus. Many of the cells died or were unable to divide and create normal brain cells.

Q: What does this research mean for the scientific community studying the Zika virus?

Dobyns: This research helps scientists understand how the Zika virus could be leading to the birth defects we are seeing. It gives us a path to research drugs and vaccines to prevent Zika infection from causing brain defects. Read full post »

Microcephaly: Neurologists Answer Questions in Light of Zika Outbreak

The World Health Organization has declared the Zika virus and its potential link to birth defects a global health emergency. Zika virus is carried mainly by a species of mosquito called Aedes aegypti.

The World Health Organization has declared the Zika virus and its potential link to birth defects a global health emergency. Scientists are studying if the spread of Zika in Latin America is linked to the increased rates of microcephaly, a condition in which babies are born with unusually small heads. Zika virus is transmitted mainly through the bite of an infected Aedes aegypti or Aedes albopictus mosquito.

Dr. William Dobyns and Dr. Ghayda Mirzaa are pediatric neurogeneticists and researchers at the Center for Integrative Brain Research at Seattle Children’s Research Institute who treat and study microcephaly. On the Pulse sat down with them to discuss microcephaly.

Q: What is microcephaly?

Mirzaa: Microcephaly is a condition in which a fetus or baby’s head size is abnormally small, defined as more than two standard deviations below average. The smaller head size reflects abnormal or decreased brain growth. Microcephaly affects about 2% of newborns, while severe microcephaly, defined as a head size more than three standard deviations below average, is seen in less than 0.1% of newborns.

Microcephaly occurs as the only birth defect in many children, but it can also occur with a wide range of additional abnormalities including other brain defects. When a baby has microcephaly, a neurologist or geneticist will order tests to determine the cause. Read full post »

Chronic Migraines in Kids: A Family Works Past the Pain With Seattle Children’s Researcher

Tyler Stewart has struggled with chronic migraines all his life. With Dr. Emily Law’s behavioral treatment, he has new tools to reduce the migraines.

Tyler Stewart was 5 when he had his first migraine. He stepped out of class to get a drink of water, got a headache and vomited. His mom, Kelly Stewart, got a call from the school. The nurse suspected Tyler had a migraine.

Tyler, now 15, says chronic pediatric migraines affected his entire childhood experience, from school to sports.

“The day I had my test to qualify for my black belt in tae kwon do, I had a migraine,” he said. “I got the black belt, but I had to push through a migraine to do it.”

This past summer, Tyler began to see Dr. Emily Law, a psychologist in Seattle Children’s Pain Medicine program and a researcher at Seattle Children’s Research Institute. She studies the use of behavioral interventions and screening tools in treating pediatric migraines, and recently received a grant from the National Institutes of Health to support her research. Read full post »