Towards a new treatment | Action Medical Research

Touching Lives - March 2013

Towards a new treatment

Alex and Daniel Orrit (pictured) both have a rare genetic disorder that affects at least one in every 60,000 newborn babies in the UK. There is no cure and no treatment. Action is funding researchers in Cardiff to assess two drugs that could benefit children with this disorder.

The rare disorder Smith-Lemli-Opitz syndrome (SLOS) leaves babies with autism spectrum disorders, and the most severely affected have birth defects, such as cleft palates, learning disabilities and life-threatening problems. SLOS results from the body’s failure to make its own cholesterol.

In a bid to help change this, Dr Emyr Lloyd-Evans of Cardiff University is overseeing a range of laboratory studies that he hopes will reveal more about the molecular processes that cause SLOS. This information could then be used to help develop new clinical tests for monitoring the disease progression and assess the potential of two possible new treatments. Dr Emyr Lloyd-Evans and his team of researchers recently discovered similarities between SLOS and another rare illness called Niemann-Pick C (NPC). Therapies that work for children with NPC may also help children with SLOS. “Treatment slows disease progression of NPC,” says Dr Emyr Lloyd-Evans. “If it could do the same for children with SLOS that would be a significant advance.” According to Alex and Daniel’s mum Victoria, the first few years of her sons’ lives were very difficult. Getting a diagnosis came as a huge relief, but there is still a lack of awareness and understanding of SLOS. She says: “I was excited when I found out about the research into SLOS funded by Action. Improving understanding of rare conditions is so important, and the development of new and effective treatments that could help my boys would be amazing.”

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