News & views
Since the last time we ran this course – three months ago - we have been tracking the appearance of genomics in the news in order to assess how salient it is in the ever changing news cycle.
It has surprised even us how frequently genomics news stories appear. Almost daily we hear about the impact of genomics on healthcare and how gene-directed diagnosis and therapies are transforming our understanding of widely divergent fields of medicine. We thought we would share with you some of the stories we found particularly interesting. They exemplify the extent to which genomics is going to change everyone’s lives, whether as a patient or as a healthcare professional.
Could your genome be your ideal personal trainer?
Having trouble shifting those last few pounds? Feel stuck in a rut with an exercise routine that only gets you so far? Then the direct-to-consumer DNA testing market is targeting YOU.
A recent BBC report describes a growing number of DTC (direct to consumer testing) companies who are offering DNA testing that focuses on information about how your body responds to diet and exercise, suggesting that an informed approach can allow you to tailor your regime to your body’s specific metabolism.
Some have claimed that having information tailored to them has made a difference to their approach and their fitness results. But many geneticists would argue that not enough is currently known about the effects of genetic variation on health and nutrition for these to be more than a powerful placebo.
Where do you stand? If you want to find out more, there is an interesting article in BBC news.
Genetic blood test revolutionises prostate cancer treatment
Personalised medicine is becoming a reality for prostate cancer sufferers, thanks to a revolutionary blood test enabling a ‘liquid biopsy’.
The test uses next generation sequencing technology to undertake exome sequencing of cell free tumour DNA, circulating in the patient’s bloodstream. The test analyses tumour DNA in order to select the appropriate treatment, monitor the patient’s response to treatment, and detect early signs of emerging drug resistance.
Gene editing for Huntington’s disease
The use of gene editing for gene therapy took another step forward recently as in June 2017, a team of Chinese scientists based at Emory University in Atlanta, Georgia reported in the Journal of Clinical Investigation using CRISPR/Cas9 gene editing system to successfully treat mice with Huntington’s disease.
Huntington’s disease is a triplet-repeat expansion disorder, where an expanded CAG repeat in the Huntingtin gene (HTT) leads to expression of a protein with an expanded polyglutamine tract. This mutant protein is neurotoxic to cells in the striatum of the brain, causing motor and cognitive defects.
The group developed a somatic therapy whereby they injected a virus containing the CRISPR/Cas9 gene editing system into the striatal neurons of mice models with Huntington’s disease, to delete the polyglutamine tract in the HTT gene and suppress expression of the mutant Huntingtin protein which causes neurotoxicity. They were able to demonstrate that this alleviated motor deficits and neurological symptoms in the mice.
Whilst there remain safety concerns about the use of CRISPR/Cas in vivo, this represents a significant advance towards developing a therapy for this devastating neurological condition.
Update on gene drives
A hot topic for discussion has recently been the development of ‘gene drives’ - molecular tools that harness the power of the CRISPR/Cas9 system to create a self-perpetuating gene editing tool which can spread genetic change rapidly through a population.
One suggested application for gene drives is in the control of mosquito populations in areas where malaria and other blood-borne infectious diseases are rife. Now researchers from ‘Target Malaria’ have been testing how gene drives behave in ‘wild populations’, with the construction of a specialist lab in Italy, containing enclosures that aim to recreate the environmental conditions of mosquitos in the wild.
One significant obstacle has emerged - that wild populations seem to develop resistance to the modifications. Nevertheless, although there remain many technical and ethical barriers to the future release of such modified organisms in the wild, Target Malaria are already working with local communities in Burkina Faso to prepare the ground for a potential trial in the future.
Which of these stories interests you most and why? Have any other stories about genomics in the press caught your eye?
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