Finding cures for children's genetic diseases

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Geneticist discovers new syndrome

12/Apr/2019  

A Sydney researcher discovered a blinding eye condition which is affecting an entire family in Australia and others internationally – and hopes that her work could lead to a treatment.


Professor Robyn Jamieson is head of the Eye Genetics Unit at Children’s Medical Research Institute in Westmead, Sydney. Her team’s work in, collaboration with researchers in the US and The Netherlands, has just been published in Genetics in Medicine - which is the journal of the American College of Medical Genetics and Genomics.

It is the result of many years of work for Professor Jamieson, who is also a Clinical Geneticist at the Children’s Hospital at Westmead. She first met the White family in 2004 when Mum, Beth, came to her about vision loss. Four years ago, it was discovered that Beth’s three young children were also showing signs of vision loss as well as other symptoms which Professor Jamieson was intrigued by.



“I had seen the family and we knew that Beth had retinal dystrophy, but she also had these other unusual symptoms, including fever and headaches and issues in the optic nerve,’’ Prof Jamieson said. “We suspected there was a novel gene involved because of the unusual features.’’

During the course of her work, Prof Jamieson started speaking to researchers around the world, and so far five families have been identified in Australia, the US and The Netherlands with the same symptoms.
“It turned out it did sound like they had the same condition, and we ended up finding the same variant in the same gene.’’

The gene where they found the variant is called ALPK1, and the new condition has been named ROSAH Syndrome.

“My lab also did the work looking at the expression of the gene and our latest, results suggest that it is involved in signalling pathways of cells, with a likely role in inflammation.’’

Beth White, who started to lose her vision as a teenager, wants her children to have a different life.

“Living with a visual impairment, every day is hard work and I don’t want that for my kids,’’ Mrs White said. “Every parent wants to give their kids every opportunity for a better life, and I can’t imagine the impact. Even if we could stabilize their vision, if they could hold on to what they have now, it would be a miracle.

“Hope is everything, knowing that there are people out there interested means the world to us.’’

Her husband, David, has watched Beth lose her “vision, mobility and confidence’’.

“I’ve seen my wife go through that, and if I can avoid seeing my kids go through that, then I will,’’ Mr White said. “It’s going to revolutionize the lives of so many people, we don’t have a lot of time, the longer it takes, the less vision they’ll have to save.’’

Professor Jamieson said discovering the syndrome supported what the family had been saying for many years.

“The families have experienced many years of doctors not knowing what was happening, so this gives understanding for everyone. Now the families and their doctors know it is a syndrome that other people have as well.

“It also means there is the prospect of developing a genetic or other therapy, as we are able to do more investigation of the function of the gene. This could present an opportunity to think about a potential treatment.  And that’s really exciting. It certainly creates hope.’’