A newborn screening test for Wilson disease is being trialed in Washington beginning November 1 in a pilot study that Dr. Sihoun Hahn hopes will lead to diagnosing infants across the country who have this life-threatening but easily treated disease.
Dr. Sihoun Hahn
Dr. Hahn, medical director for Biochemical Genetics and director of the Wilson Disease Center of Excellence, has been studying Wilson disease for 30 years and says developing a newborn screening test is his mission in life. Wilson disease is where excessive copper accumulates in the body beginning at birth. It is easily treatable with zinc supplements if detected early. But usually, it goes undetected until irreversible side effects occur in late childhood or early adolescence, including liver failure or neurological deterioration.
At some point, “I recognized the only way to prevent these effects is to treat kids before they show symptoms,” Hahn said. “That’s when I changed my research paradigm and began focusing on developing a newborn screening.” His method has implications beyond Wilson disease to potentially diagnose 11 to 15 primary immune deficiency disorders for which infants are not yet tested.
Read more about Wilson disease in the On the Pulse blog entitled, “Newborn Screening for Rare Disorders Becomes Researcher’s Lifelong Mission.”
Seattle Children’s Research Institute Celebrates 15 Years
Dr. Hahn’s work is part of Seattle Children’s Research Institute (SCRI), which is celebrating 15 years this fall. Since it started in 2006, SCRI has grown into a research workforce of over 2,000 people studying more than 200 childhood diseases and conditions.
Facts about SCRI
- SCRI is ranked fifth in the nation among pediatric research institutions for National Institutes of Health (NIH) funding.
- SCRI has 1.1 million square feet of research space in downtown Seattle.
- One revolutionary technique we are studying is immunotherapy, which reprograms a child’s own immune system to fight cancer. (Learn more about Seattle Children’s immunotherapy research and clinical trials.)
- SCRI scientists are studying gene therapy to repair missing or damaged sequences in a child’s DNA, with the potential to cure genetic disorders like type 1 diabetes and sickle cell disease.
