SC Portland Outcomes Report 2023

HISTORICAL RESEARCH TIMELINE

1983 The Shriners Children’s

1984 The previously unknown matrix protein “fibrillin” is discovered.

1986 Present Type VII collagen is found to be the “anchoring fibril” protein in skin, leading to treatments for the severe blistering disease Epidermolysis

Portland Board of Governors envisions a research group to investigate the causes of heritable connective tissue diseases. The basic research department is founded!

2000 HOX patterning is

2000 FGFR3 is found to have an important role in Achondroplasias.

2000 Fundamental research into the foundations of tendon origin, growth and development lead to insights in abnormal joint contracture.

established to have an important role in digit formation.

2009 A blood test to predict aortic rupture is developed after fragmented fibrillin in the blood stream is found associated with aortic aneurysm in Marfan syndrome. A patent for this blood test is granted in 2011.

2012 Mutations in the Fibrillin-1 gene are found to cause Weill-Marchesani syndrome, an acromelic dysplasia.

2019 Expansion of the CXM

Biomarker Assay to detect Bone Growth into clinical applications for scoliosis and other spine conditions.

46 | Shriners Children’s Portland

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