Experience Counts in Moyamoya Disease Care
Because he was treating so many people with this rare condition, Steinberg began to collect Moyamoya-altered tissue, blood and cerebral fluid to conduct analysis that might lead to better understanding and treatment of the rare condition. Steinberg and his colleagues suspected the disease had a partial genetic basis, when they noticed that about 10 percent of Stanford’s patients had moyamoya in their families.
When technology finally allowed a genetic analysis of that material, Steinberg's research group discovered some novel genetic mutations that predispose to developing Moyamoya disease. His research continues, using that tissue bank, which dates back to 1995, to develop a deeper knowledge that could lead to more effective treatments, including non-surgical approaches.
After police pulled over a woman driving across the Golden Gate Bridge in a way they thought was influenced by alcohol, doctors later discovered that her behavior was driven by a hemorrhage in her brain, initially thought to be caused by an arterial venous malformation (AVM), another form of vascular disruption.
"When we looked closer," Steinberg said, "we discovered that it was not the AVM causing the bleeding but Moyamoya-affected vessels near the AVM." That patient lead to others and one of those early patients created a website on the condition to alert others. "Our patients have been a great source of increasing awareness and support to each other," Steinberg said.
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