2020 Outcomes Report Portland Shriners Hospital

Historical Research Timeline

I’d wait longer and travel more to experience the level of care we have received. Dr. Bauer and Dr. Roy made decisions just prior to surgery that I can trust and appreciate. Their level of expertise and motivation will have us singing the praises of Shriners Hospitals for Children — Portland for years to come.

1983 The Portland Shriners Hospital Board of Governors envisions a research group to investigate the causes of heritable connective tissue diseases. The basic research department is founded! 1986-1999 Research on type VI collagen microfilaments leads to important findings about its role in certain Muscular Dystrophies.

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

Julie, patient parent (Mother of Piper, age 7)

1986-2019 Mutations in collagen molecules are shown to lead to structural defects in the many forms of Osteogenesis Imperfecta (also known as Brittle Bone Disease).

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

1996-2017 Discovery of the role of collagen X in the growth plate of cartilage which acts as a real-time indicator for bone growth. A patent for this blood test was issued in 2018.

1986-2000 Extending knowledge on Type III collagen and its role in Vascular Ehlers Danlos Syndrome. 1991

2000-Present HOX patterning is established to have an important role in digit formation. 2000-Present FGFR3 is found to have an important role in Achondroplasias.

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

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

2009-2018 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.

Mutations in the Fibrillin-1 gene are found to cause Marfan syndrome. As a result of this work, there is now a diagnostic test for Marfan syndrome.

1996 A mutation in a small cartilage protein COMP is found to result in the dwarfing disorder “Pseudoachondroplasia”.

Shriners Hospitals for Children — Portland 42

2020 Annual Outcomes Report 43