he was diagnosed with Alagille syndrome.
There are no pink ribbons for Alagille syndrome. No corporate- sponsored 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. The Institute 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 Sanford Burnham Prebys 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 other developmental defects throughout their body, including the heart, kidneys, vertebrae, blood vessels and face.
There is no cure for this life- threatening disease, and half of all patients need a liver transplant before adulthood. Better treatments are desperately needed. Until this scientific meeting, there has been little discussion about working toward a cure for this genetic disease.
More than 100 people attended the event at the La Jolla campus, including clinicians, patients and families. Most attendees, however, were researchers who are interested in Alagille syndrome science and were eager to hear from fellow scientists about their challenges and discoveries related to the disease.
Dong was one of those researchers.
Rare statistics
>7,000
different types of rare diseases
1 in 10
Americans are living with a rare disease
30%
of children with a rare disease will not live to see their 5th birthday
In the U.S., a condition is “rare” if it affects fewer than
200,000 people.
Source: Global Genes
Connections
“In some ways, organizing this meeting was partly selfish,” he says. “I wanted to gather all the people studying various aspects of this disease so I could learn from them, share our lab’s recent discoveries and establish a more connected Alagille syndrome research community.”
Dong and his team have been studying JAGGED1, the gene implicated in Alagille syndrome.
Taking advantage of an unusual animal model, the zebrafish, they were able to uncover a novel genetic mechanism for the disease—opening new potential therapeutic avenues.
Further, his team surprisingly discovered that the bile ducts lost can be regenerated after they turned the affected gene back “on.”
“The implication is that these developmental defects in Alagille syndrome patients could potentially be reversible and that this disease may be treated by gene therapy,” he explains.
Looking ahead
Much more research is needed, but as a result of the meeting, Dong and fellow scientists have already formed new collaborations. There are also plans to make a scientific Alagille syndrome meeting an annual event, held at rotating locales around the country.
“These meetings give a rare disease a huge boost, not just in recognition but in science,” Dong says. “It’s a day that we push the field forward and try to move closer to a cure.”
