Genetics Research Improves Diagnosis, Treatment of Rare Metabolic Diseases Around the World

Dr. Sihoun Hahn led a collaborative research study which helped a 10-year-old girl walk for the first time in her life.
Dr. Sihoun Hahn led a collaborative research study which helped a 10-year-old girl walk for the first time in her life.

A collaborative research study led by Dr. Sihoun Hahn, director of the Biochemical Genetics program at Seattle Children’s and an investigator within Seattle Children Research Institute’s Center for Developmental Therapeutics, has changed the lives of children around the world and helped a 10-year-old girl walk for the first time.

Research answers a parent’s prayer

Bokyung Kim, a 10-year-old living in Korea, spent most of her life confined to a wheelchair. Doctors suspected that she suffered from muscular dystrophy, but were unable to diagnose her condition. Bokyung’s parents prayed that their daughter would walk one day. So when they had the opportunity to enroll Bokyung in a collaborative research study between Seattle Children’s Research Institute, University of Washington School of Medicine and Seoul National University College of Medicine in Korea, her parents were eager to participate.

“This family never lost hope for their child,” Hahn said. “And neither did we.”

Bokyung was among 58 patients with neuromuscular disorders who enrolled in the study. Each child’s DNA was tested by next-generation sequencing technology for genes associated with muscle disease.

It wasn’t long before the family’s prayer was answered. The results of the genetic testing revealed a treatable underlying cause of Bokyung’s condition: congenital myasthenic syndrome. After three months of specialized treatment, Bokyung walked for the first time.

“This child’s story is a miracle,” Hahn said. “It shows how we can make a difference for children and families all over the world, not just in the United States.”

Technology accelerates discovery

Bokyung’s story demonstrates the importance of improving diagnostic techniques for genetic disorders.

“Many patients like Bokyung remain untreated, and some children die because they don’t have a diagnosis for their disease,” Hahn explains. “Fortunately, new technologies, including next-generation sequencing, allow us to look at a patient’s entire genome within a couple of days. When I was a fellow, I never envisioned that this day would come.”

Hahn’s study of Korean children with neuromuscular disorders, published in the Journal of Medical Genetics, demonstrated that next-generation sequencing technology can offer cost-effective, safe and relatively rapid turnaround time for the potential diagnosis of genetic diseases, including the metabolic disorders that Hahn and his team study and treat.

For many children today, diagnosis of a neuromuscular or metabolic disorder requires a muscle biopsy, which can be risky.

“These children are quite fragile and they can develop permanent complications after general anesthesia,” Hahn explained. “I hope continued research into underlying genetic causes — and the discovery of unique biomarkers — will transform care for children with metabolic diseases such as mitochondrial disorders, lysosomal storage disorders and Wilson disease. Our goal is to diagnose these conditions as early as possible, in the least invasive manner.”

Philanthropy bolsters the spirit of inquiry

Even with funding from the National Institutes of Health, Hahn’s laboratory relies on philanthropy to conduct research that saves and transforms lives around the world. Gifts from visionary donors make it possible to purchase vital equipment, develop innovative ways of diagnosing disease and test promising treatments. Philanthropy is especially important in funding research into metabolic diseases, which are collectively common but individually rare.

“I’ve been studying metabolic diseases for 25 years and research funding continues to be very limited,” Hahn explains. “Philanthropy will make a big difference for us as we develop screening tools for use throughout the world.”


  • Seattle Children’s Program for Mitochondrial Medicine and Metabolism
  • Seattle Children’s Biochemical Genetics Program