A line of zebrafish specially generated at the University of Oregon had a key role in discovering the cause of Saul-Wilson syndrome, a rare disease seen in just 15 cases worldwide.
The discovery was detailed Oct. 4 by an international team of scientists in a paper published online ahead of print in the American Journal of Human Genetics.
Researchers found that the disease — marked by dwarfism, microcephaly, hearing loss and developmental delays — results from an alteration in a gene that codes for a protein that is part of a stacked pancake-like structure known as the Golgi complex that directs protein traffic.
“This has been a disease with no known cause, so our discovery can provide great relief to affected families,” said Monte Westerfield, a UO professor in the Department of Biology and member of the Institute of Neuroscience. “They now know that the problem is genetic and not due to problems with pregnancy, infectious disease or other environmental causes.”
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Image via University of Oregon.