SBP Pathways Summer 2017

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Kashton Genest was 7-weeks-old when he was diagnosed with Alagille syndrome.


This Disease Has Not Been Forgotten Alagille syndrome takes center stage on Rare Disease Day There are no pink ribbons for Alagille syndrome. No corporatesponsored awareness campaigns, and no nationwide relays, walks and races. In fact, patients with Alagille syndrome run into doctors who haven’t heard of their disease. But on February 24, 2017, Alagille syndrome took center stage—thanks to the 8th annual Rare Disease Day symposium at Sanford Burnham Prebys Medical Discovery Institute (SBP). The SBP symposium series highlights a rare disease each year, and this year’s event was the first-ever scientific meeting to focus on Alagille (al-uh-GEEL) syndrome, a rare genetic disorder that occurs in one in 30,000 births. “I wanted to organize a meeting where patients could come and see that there are many scientists out there who care about


this disease and are pushing for a cure,” says Duc Dong, Ph.D., assistant professor at SBP and the 2017 symposium chair. “I wanted them to realize that there is hope, that this disease has not been forgotten.” TODAY: NO CURE Babies born with Alagille syndrome have too few bile ducts—which are essential for the transport of waste out of the liver. This causes liver damage, and consequently, toxins to build up in the blood, leading to constant, severe itching. Alagille syndrome patients can also have many

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