Partnership Opportunities

Wilson Disease and Other Lysosomal Storage Diseases – Newborn Screening

A new method uses dried blood samples to detect lysosomal storage diseases, primary immunodeficiencies and Wilson disease

Technology Overview

Sihoun Hahn 220x180Dr. Sihoun HahnEvery year in the United States, 4 million babies are born, most of whom are screened by a simple blood test for dozens of conditions that are not evident at birth but have serious health outcomes if not treated early. Newborn screening is cost effective and can protect children and families from devastating consequences of certain inborn disorders.

About 150 babies a year are born with Wilson disease, which causes copper to accumulate in organs such as the liver. With a simple zinc-based therapy adminis­tered early, people with Wilson disease lead normal lives. Untreated, they eventually need a costly liver transplant. Unfortunately, methods for routine newborn screening for Wilson disease have not been available. Dr. Sihoun Hahn and colleagues developed a rapid, practical method for testing infants for Wilson disease. The method can also be used to diagnose primary immunodeficiencies similar to severe combined immunodeficiency (SCID) for which infants are not yet tested, and can be used to improve treatment of children with lysosomal storage diseases such as cystinosis, Pompe and Fabry diseases and Hunter and Hurler syndromes. Hahn’s method uses dried blood spots (DBS) on filter paper. These samples are routinely collected at birth and processed by state clinical laboratories that perform newborn screening. Hahn’s team recently published a proof-of-concept paper on their method, immuno-selected reaction monitoring (SRM) for screening using DBS. The technique extracts and enzymatically digests proteins from DBS and uses highly specific antibodies to enrich for characteristic peptides that are quanti­fied by mass spectrometry (MS) to arrive at a diagnosis. Using antibodies developed by the researchers to peptides for various conditions, immuno-SRM can be adapted to diagnose 11 primary immunodeficiencies including XLA, x-linked agammaglobulin­emia. Hahn has experience working with industry partners to develop screening assays. He seeks a partner to develop and market a kit that would be an add-on to MS equipment that state clinical laboratories routinely use. The kit would include reagents and hardware, including columns that could be reused several times, for automated processing from DBS to diagnostic results.

Stage of Development

  • Pre-clinical validation

Partnering Opportunities

  • Collaborative research opportunity
  • Sponsored research agreement
  • High throughput screening
  • Kit Development
  • Consultation agreement
  • Clinical Trial


  1. Jung S, Whiteaker JR, Zhao L, Yoo HW, Paulovich AG, Hahn SHQuantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s DiseaseJ Proteome Res 2017. 16(2):862-871. doi: 10.1021/acs.jproteome.6b00828.

Learn More

To learn more about partnering with Seattle Children’s Research Institute on this or other projects, please contact:

Dr. Elizabeth Aylward, Director 
Office of Science-Industry Partnerships 
Seattle Children’s Research Institute 
818 Stewart Street, Suite 603
Seattle, WA 98101