Author: Lindsey Moffitt

Business Development Associate – Precision Medicine

Stem cells offer hope for sufferers of Spinocerebellar Ataxia

What is Spinocerebellar Ataxia?

Spinocerebellar ataxias (SCAs) are a group of inherited, genetically heterogeneous disorders which are characterised by ocular motor abnormalities, cognitive dysfunction, peripheral neuropathy and progressive cerebellar ataxia. In general, the prevalence of SCA is between 2-7/100,000 individuals with more than 30 subtypes being identified, each caused by a mutation of a different gene.

PolyQ SCAs including SCA1, SCA2, SCA3, SCA6, SCA7 and SCA17 are caused by an extensive CAG sequence repeat which encodes for expanded polyglutamine residues within the ATXN3 gene. The only currently approved treatment option for patients suffering with this debilitating, progressive disease is Ceredist, however this only provides palliative treatment in reducing or relieving frequency and severity of symptoms. Stem cell therapy is offering hope, with evidence of potential efficacy being demonstrated in a phase I/II clinical trial using stem cells isolated and cultured from human adipose tissue.

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The Gut Microbiome and its Role in Inflammatory Bowel Disease

Recently, the microbiome and its role in disease, particularly Inflammatory Bowel Disease has been the focus of much global attention. As our knowledge expands, could this plethora of research be harnessed to help understand the host response to medications? Manipulation of the host's gut microbiome could provide relief from the debilitating symptoms of IBD, whilst sequencing the genome of the organisms colonising these niche environments may open up new drug development avenues for pharma.

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An Improved Model for IBD Drug Discovery

Animal models have been used for years to provide proof of concept for new therapies, however there are major flaws which need to be addressed. Studies using mouse models cannot accurately predict patient response to a new compound. Translatability requires a suitable model which will reduce attrition rates in phase II and III clinical trials which are proving to be of detriment to R&D productivity[1].

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