“My child is 4 years old. Can we have a playdate?” said one parent of a child with Alagille syndrome to another.
That kind of connection was a bonus of the 8th Annual Rare Disease Day symposium, held on February 24th at Sanford Burnham Prebys Medical Discovery Institute (SBP) in La Jolla. The focus this year was Alagille syndrome (ALGS), a genetic disorder that affects one in 30 thousand births. ALGS primarily affects bile ducts in the liver, but can also damage the heart, kidney and other parts of the body. It can cause painful body itching as toxins are released into the bloodstream because they’re not absorbed and processed by the liver. Many patients require a liver transplant to survive.
Symposium chair Duc Dong, PhD, assistant professor at SBP, created an event that brought researchers and medical doctors from all over the world together for the first time to talk about new perspectives, ideas and collaborations that offer fresh hope for these patients and their families.
“We want patients and families to know there are a lot of people working on this,” Dong said. “When all these researchers and clinicians come together, we see hope that this disease can be conquered.”
Scientists shared two decades of Alagille syndrome research, including the advances and challenges. Cindy Luxhoj, executive director of the Alagille Syndrome Alliance talked about the Alagile Warriors, a group of patients with the disorder. Some have passed away, and others battle the disease every day. A young woman who has Alagille shared what it’s like to live with the disorder, and how important it is to bridge the gap between patients and researchers.
“That’s what this was all about,” Dong said. “We hope the information that comes out of this meeting pushes us over the edge and help us find a cure for Alagille.”
In photo: Assistant Professor Duc Dong, PhD, (left) with Alagille syndrome patient Kashton (center) and his parents
