20 August 2015

A talk with Dr Fotios Sampaziotis

Dr Fotis working in the lab on his bile duct model research projectSparks sat down with researcher Dr Fotios Sampaziotis to talk about his research into Alagille Syndrome at the University of Cambridge. Alagille syndrome is a painful and deadly bile duct disorder, but we have little knowledge about the cause of it. Dr Sampaziotis explained what Alagille syndrome is and why bridging the gap in research is so important.

“Alagille syndrome is a rare disorder, but that doesn’t make it less important for people who have the disease. What happens is the waste disposal system breaks down, then toxic bile overflows in to the liver and starts destroying it, which instigates liver disease.”

Researchers aren’t entirely sure how Alagille syndrome manifests, they know it is caused by a gene mutation. However, they  found that some people will have symptoms early in life while others will never become ill. Scientists have not had suitable models to study the disease until recently.Dr Fotis working in the lab on his bile duct model research project

“One of the problems is that we couldn’t grow bile duct cells in the lab. By achieving that, we have a tool that can not only can be used for Alagille syndrome but can be easily transferred to many other diseases. It can be used for the first time as a platform to screen drugs and identify a drug that could prevent disease progression.

“Our main goal is to look at how the disease progresses, what else is there that may cause the disease to advance because clearly there must be something else other than the single gene mutation. If we find it, then we are going to be able to develop new diagnostic tools and new treatments.

“If we could manage the disease it would make a huge difference. If you have a child with Alagille syndrome, we do not know how things are going to develop unless the disease has progressed to a very severe stage. If we knew earlier on, before the disease progresses, it would help in our management.

When asked about the importance of Sparks funding into this type of research, Dr Sampaziotis told us, “When looking at rare disorders, many people are very negative about it, but Sparks realises that it’s going to extend beyond just one disorder to help other diseases. You need people who will support and encourage you, and most importantly who share your vision.

“I would just like to thank Sparks’ supporters because all of this has been possible because of their support. Keep supporting because all of what we do is going to change children’s lives.”