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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Induced pluripotent stem cells (iPSCs) have the potential to revolutionize the fields of drug discovery, disease modelling, personalized medicine and regenerative medicine ^[1]. iPSCs have the capacity for continuous self-renewal and differentiation into several different cell types. At the same time, they also do not face many of the ethical challenges faced by human embryonic stem cells ^[2].

In order to fully realize the potential of iPSCs for many of the above applications, there is a requirement to generate a vast number of cells; hence, an effective method of mass culture of iPSCs is highly sought after by iPSC researchers.

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The discovery of both CRISPR (Clustered Regularly Interspaced Short Palindromic Repeats) and associated proteins, the Cas nucleases, has revolutionized the field of gene-editing.  Characterization of the role of the CRISPR-Cas system in pathogen detection, the immune response, and DNA repair mechanisms, has enabled this naturally occurring biological system to be harnessed and developed as a valuable research tool.

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The current job market is a confusing, intimidating place for both employers and applicants. Internships are an excellent opportunity to access future talent at an early stage, and also present a range of additional benefits. In this post, we will describe 4 ways that hiring an intern can benefit your team and business.

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When you are planning a project involving stem cell reprogramming, there are several factors to consider when choosing a reprogramming technology and a service provider. This post will highlight 5 questions you may want to answer before choosing a service provider or reprogramming technology.

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Three-dimensional (3D) in vitro culture is now a recognized technique to improve the performance and physiological relevance of immortalized and primary cells. 3D culture also increases proliferation rates in some cell types (e.g. mesenchymal stem cells^[1], osteosarcoma cells^[2], HUVECs^[3], which puts extra demands on nutrient supply and waste removal. This issue can be addressed by the use of bioreactors, which circulate a large quantity of medium over or around the 3D culture and further improve cell proliferation and specific protein expression beyond that seen for static 3D cultures (e.g. dermal fibroblasts^[4], cardiac cells^[5], marrow stromal cells^[6], osteogenic cells^[7].

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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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A database linking medical history and tissue compound response has direct relevance to future drug discovery projects and healthcare stratification. By making this data available to point-of-care centers, it could transform medication management approaches and improve individual patient care^[1]. As the concept of integrating Big Data with healthcare is on the rise, it is increasingly appropriate to have reliable information at your fingertips.

REPROCELL has initiated a research and development project where historical data regarding Inflammatory Bowel Disease (IBD) has been collated. Tissue samples were donated by patients for whom conservative treatment had failed and subsequently required surgical intervention. This data collection project is in its infancy, but it already includes the anonymized medical history of over 250 different donors.

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Most biologists are familiar with the precision gene editing system CRISPR. But what about SNIPER^†? SNIPER is a digital PCR (dPCR) and culture-based screening technology that has the power to enhance CRISPR-Cas9 gene editing, enabling multiplex gene modification, biallelic gene insertions and increased screening efficiency. Read on to find out more about how SNIPER can enhance your precision gene editing protocols and save you time, money and effort.

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Imagine CRISPR – but more efficient, reliable and flexible. SNIPER works in synergy with the CRISPR-Cas9 system to fulfill even the most challenging gene editing projects – including biallelic modifications, single base-pair changes and large DNA insertions. Read on to discover four examples of CRISPR-SNIPER in action.

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