Monday 13 February 2017 11:58am
Hannah Best has spent the past three years in a lab trying to find a treatment for Batten disease and, as the recipient of the 2017 Roche Hanns Möhler Doctoral Scholarship, has six more months to determine whether or not her treatments will work. At this point in her research she has narrowed it down to just two main contenders: a gene therapy, and a drug treatment.
Batten disease is a group of genetic diseases which affects children. “The best way I could describe it,” Hannah says, “is like Alzheimer’s, Parkinson’s, epilepsy, and blindness all at once.” Children with Batten disease develop normally for the first few years of their lives, and then at between 4 and 8 years of age they begin to slip backward. As the disease develops the children start to experience sleep disturbances, hallucinations, vision problems which lead to blindness, seizures of increasing severity, cognitive decline similar to dementia, progressive loss of their motor skills, and then eventually the disease claims their lives. It is incredibly rare, affecting only a handful of families in New Zealand, but the severity of the disease makes it impossible to ignore.
“We met some of the families last year,” Hannah tells me, “and that whole experience, seeing people going through that, just makes you want to get back into the lab and not leave until you have something to show for it.” However, scientific progress takes time. In the first stage of testing each potential treatment took at least a month to be properly examined, and there was no guarantee that any of them would work. At the end of the two year mark Hannah had two treatments that looked promising, and so in November of 2015 they began using those treatments on mice with Batten disease. The results of that second stage of tests are what Hannah will be examining in this 6-month extension to her PhD.
Will the treatments work? She isn’t sure yet. Batten disease is believed to be caused by cells not being able to clear out waste products effectively. This happens all over the body, but brain cells are particularly vulnerable to the problems this causes. The more waste in a cell the slower it works and the harder it is to communicate with other cells. Eventually the inside of the cell becomes toxic causing the cell to die. Hannah’s treatments target this specific problem, forcing each cell to work harder to clear out waste. They were the best working treatments for cells grown in a petri dish, but that doesn’t mean that they’re guaranteed to work in a fully-formed body.
Until the results are in and analysed it is hard to know what to expect. Hannah speaks very carefully about her work, trying her best not to oversell it, and it’s clear that she’s trying not to get anyone’s hopes up. In a field like this false hope can so easily end in disappointment for the families living through Batten disease. By the end of August, though, she expects to have her results completed, and good or bad that information stands to tell us a huge amount about this rare but terrible disease.
Hannah Best is a PhD student under the supervision of Dr Stephanie Hughes. To learn more about Dr Hughes and her work on batten disease click here
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