The gene which encodes the CFTR protein was identified in 1989. Since then, a lot of research has been conducted into the disease, how to treat the symptoms, and more importantly, how it might be prevented by correcting the genetic defect. One way of making this correction is by replacing the entire gene in affected cells with a 'normal' version - a method known as 'gene therapy'. The most difficult aspect of gene therapy is delivering the normal gene to the intended site. Since the symptoms that occur due to a faulty CFTR protein are most problematic in the airways, initial attempts to deliver the correct version of the gene have focused on targeting it to the epithelial cells of the lungs, where only 5-10% of normal CFTR expression is needed to alleviate the symptoms of CF. The difficulty occurs when attempting to insert the gene into the targeted cells; in order to get the genetic material into the cell, a vector is required. This can either be a viral (modified viruses which deliver genes by 'transduction') or non-viral vector, such as plasmid (circular) DNA or liposomes, which fuse with the cell membrane. As with other CF drugs, these can be delivered directly to the lungs by inhalation, using a nebuliser. Patient trials have resulted in some success, with signs of a partial correction of the genetic defect in the airways of CF sufferers. However, the limiting step so far seems to be finding a vector which results in an persistent high-level of gene expression required to have a significant effect.
Other research away from gene therapy includes investigations into the transmission and virulence of pathogens which commonly infect CF sufferers, the link between infections, inflammation and lung damage, and work which focuses on the use of drugs to aid CFTR function, by way of binding to the faulty channel, or opening other channels in the cell wall to allow the movement of sodium and chlorine in and out of the cell.
Information on gene therapy, and other research into CF treatments can be found at the following links:
CF Trust: Gene Therapy
UK Cystic Fibrosis Gene Therapy Consortium
CF Trust: Other research
Some of the money raised by myself and other CF Trust runners on Sunday will go towards funding this vital research. Money also goes towards clinical care, and the support of cystic fibrosis sufferers and their families. A breakdown of how the money is spent can be found here. So while it's important to sponsor me to do the Great North Run because it's a ruddy long way and it'll spur me on, it's mostly a good thing to do because you'll be helping sufferers of this disease and their families, to get the support and treatment that they need*.
*You'll also be funding science. Awesome, awesome science.
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