Category Archives: Target discovery

So, What Do Your Genes DO?

Genes are not passive.  They are the target of molecular “dimmer switches”; typically (but not always) specific proteins, which dial up or turn down their activity.  Most genes are translated into proteins, but discovering the true role of those proteins, in the life of a cell or a whole organism, is still one of the great challenges [...]

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How does a mutation in a transcription factor cause glue ear?

Acute otitis media, sometimes known as “glue ear”, is the most common bacterial infection in children and by 1 year of age about 60% of children will have had one episode. In some cases, children develop a chronic condition, which, despite the infection being cured, the “glue” doesn’t go away and causes deafness.  In an [...]

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Target discovery in childhood-onset asthma

Asthma is caused by a combination of environmental and genetic influences, but the specific factors are poorly understood. A significant “hit” detected in a genome-wide association scan (GWAS) for childhood asthma led a client to believe that one gene might be partially responsible. Proving that this genetic association really was causing asthma was, however, difficult. Firstly, [...]

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Pathway analysis of gene expression data – male reduced fertility / sterility

A group of animals that can breed and produce fertile offspring is one of the definitions of a species. This means that the biological mechanisms of fertility and infertility are of interest not only to evolutionary biologists, but also to clinicians and of course to the wider public. At the Institute of Molecular Genetics in [...]

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Target discovery in inherited muscle weakness

Muscle weakness can be caused by a rare inherited disease called myofibrillar myopathy. Gonzalo Blanco’s team found a mouse model of this disease and wanted to identify the underlying cause of the severe muscle weakness. Their aim was to discover potential therapeutic targets to translate into pre-clinical and clinical studies. Before I became involved, the disease had [...]

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