Vascular Anomalies Research
Seattle Children’s Vascular Anomalies Program is nationally known for our team’s expertise and innovations in research. Our physician-scientists work together to learn more about conditions, test new therapies and improve care for children with vascular anomalies. This page highlights some of our current research efforts.
VAN gene panel for precision diagnostics
Our physician-scientists have created a way to test patient tissue for all genetic changes known to cause vascular anomalies. We check for specific mutations in many DNA fragments at the same time. This advanced test is called the VanSeq Panel. We can test tissue sent to us from doctors across the nation.
No other children’s hospital has a gene panel certified for clinical use with vascular malformations. This certification means doctors can make treatment decisions based on the results and helps qualify patients for clinical trials of targeted therapies.
Targeted therapy aimed at the PI3K pathway
Many vascular malformations are caused by changes in genes involved in a biological pathway called PI3K/AKT. Our genetic research helps us create new therapies and identify existing drugs that target this pathway. The goal is to stop cells from growing too much. We offer these new therapies in research studies called clinical trials.
Dr. Ghayda Mirzaa uses next-generation sequencing to find malformations in the brain related to PI3K-AKT-MTOR genes.
New drug options for LMs
Doctors today use the drug sirolimus to treat lymphatic malformations (LMs) but with mixed results. We are exploring other drugs, like baby aspirin, that reduce the effect of the PI3K gene that causes LMs.
Computer-aided image analysis to improve diagnosis
Early diagnosis of vascular anomalies aids treatment, but it is hard to diagnose them. The different types often look like each other and like other skin problems. Studies estimate that more than half of patients with vascular anomalies have been wrongly diagnosed before they see a specialist.
We are creating a computer tool to help primary care providers diagnose vascular anomalies. The tool uses artificial intelligence (AI) to classify images of vascular anomalies and label them with a likely diagnosis. In a small study of a smartphone application, these labeled images increased pediatricians’ rate of correct diagnosis.
Therapy based on microRNA biomarkers
MicroRNAs (miRNAs) are small messenger genes that carry out instructions from DNA. To improve treatment of infantile hemangiomas, Dr. Jonathan Perkins works with other researchers to find therapies based on miRNAs. He collaborates on this work with Dr. Graham Strub at Arkansas Children’s. In earlier research, Perkins identified a miRNA biomarker for hemangiomas. He is the director of our Vascular Anomalies Program.
His research interests also include figuring out the miRNA profiles of other vascular anomalies. Identifying biomarkers could help diagnose vascular anomalies and lead to new therapies. Read more about research to improve diagnosis and treatment of hemangiomas.
Improving propranolol treatment
The blood pressure medicine propranolol has become the first-choice therapy for children with infantile hemangiomas. The medicine shrinks growths in about 60% of patients, reducing the need for surgery. We continue to improve propranolol treatment and how we monitor whether it is shrinking a hemangioma.
Our researchers are working on ways to predict which growths will respond to the drug. This could help doctors quickly decide the best treatment option for your child.
Facial nerve mapping
We invented a facial nerve mapping technique that reduces the risk of nerve injury and scars when removing vascular malformations in the face. The reduced risk makes surgery possible for many more children.
Before surgery, neurophysiologists use small electric pulses to map facial nerves. During the procedure, real-time feedback on nerve activity helps guide surgeons. The technique means shorter surgery time, with smaller cuts and near-zero risk of nerve injury.
In a study published in 2018, Dr. Jonathan Perkins and Dr. Randall Bly found that doing facial nerve mapping before an operation greatly reduced short-term and long-term facial nerve injury rates. Two years after surgery, researchers found facial nerve weakness was 2% in cases when facial nerve mapping was done, compared to 19% using current methods (nerve integrity monitoring).
Tissue bank to deepen knowledge
Our tissue bank helps us learn more about how vascular anomalies develop and gives us clues for new ways to treat them. The tissue is donated by surgery patients and would otherwise be discarded after surgery. We also collect tissue donated by family members of our patients and from patients without vascular anomalies.
Assessing the effect of treatment
We track how patients do after surgery to learn which treatments have the best results and to understand how vascular anomalies affect our patients and families.
One example is a quality-of-life survey for patients with lymphatic malformations (LMs). We ask all head or neck LM patients, as well as their families, to complete a short survey at enrollment and then 2 weeks later.
Identifying patients who need aggressive treatment
Changes in 3 areas of the PIK3CA gene account for most lymphatic malformations. Some children with the same genetic mutation have mild symptoms, while others have severe problems.
Our researchers have devised a way to measure differences in mutation strength, called GVAF. Using this tool, they found patients with stronger mutations had more severe problems.
GVAF could help doctors know sooner which patients need more aggressive treatment, such as targeted therapy.
Participate in Research
You can help us answer questions about childhood health and illness and help other children in the future. Learn more about clinical trials and research studies at Seattle Children’s.
For information about patient care, contact the Vascular Anomalies Program.