On Oct. 4, scientists from the Sanford Burnham Prebys Medical Discovery Institute (SBP) announced they had uncovered the cause of Saul-Wilson syndrome. The syndrome, first identified in 1990 and characterized by short stature, microcephaly, hearing loss and early developmental delays, is extremely rare; only 14 people worldwide are known to have it.
One of them is Monica Zaring, 30, a 2011 Bellarmine graduate we profiled in the Winter 2012 issue. “This is the news I have been waiting for my whole life,” she said in SBP’s announcement of the discovery. “A diagnosis with Saul-Wilson syndrome is just that—a name. I feel so grateful for all the doctors who never gave up, even when they didn’t have answers, and I hope this information will help more people in the future.”
The cause of Saul-Wilson syndrome is an alteration in the gene that codes for a protein that is part of a component that controls and maintains the cell’s protein packager, the Golgi complex. To read the complete announcement, visit https://tinyurl.com/zaring.