X-Men star’s mutations revealed
He might have been on a mission to destroy the mutant race in the X-Men series, but Hollywood actor Brian Cox found out about his own mutations when he opened a Next Generation Sequencing laboratory at the University of Dundee on Monday 17 June 2013.
Brian, the Rector of Dundee University, launched the Genomic Sequencing Unit (GSU) at the College of Life Sciences on Monday, 17th June. He has provided a blood sample to scientists at the facility who have carried out a full genome sequencing on his DNA.
Brian is a long-standing supporter of diabetes research at the University, and has talked extensively of his own experiences of the disease. The results of his genome sequence will be shown to him to illustrate the underlying genetic reasons for him suffering from Type II diabetes and whether or not he is a carrier of eczema related mutations.
Once the DNA sequencing was complete, Dr Christian Cole waded through the enormous amount of data to perform a bioinformatics analysis. The results of the analysis was revealed to Brian at the launch.
This is possible due to the acquisition of a leading edge Illumina HiSeq2000 sequencing instrument which, by analysing a person’s DNA, can help unravel not only pre-existing conditions, but also genetic predispositions to diseases such as diabetes and cancer.
This instrument has been acquired by the University’s Centre for Dermatology and Genetic Medicine (DGEM) led by Professor Irwin McLean to not only track down faulty genes that may cause skin disorders, especially those affecting the epidermis, but also to develop new treatments for currently incurable skin conditions and methods to deliver new therapies into the skin.
The facility will also be used for a whole variety of other applications for colleagues at the University, as well as external partners and agencies.
“This is the first time we have been able to fully sequence genomes at Dundee, and we are delighted that Brian has agreed to demonstrate the power of this technology,” said Facility Manager Dr Melanie Febrer.
“It was only 10 years ago that the first human genome was fully sequenced, and it took a consortium of international laboratories 10 years to achieve this. This instrument has the capability of sequencing four human genomes at deep coverage in just 10 days. Examining a person’s genetic material shows the particular genetic code and mutations that may have led them to being predisposed to a disease.
“We have access to a collection of blood and tissue samples of people from around the world with rare skin conditions that have proved difficult to diagnose by conventional methods. By sequencing their genome using high throughput methods, we can now look at mutations that cause a particular disease.
“The advantage of these instruments is that they can sequence millions of pieces of DNA to try and help identify what people’s genetic material is made of. The classification of the disease mutation and their associated phenotype will enable scientists to identify potential routes towards therapy. This is a very powerful and effective technique to accelerate the process from sampling to diagnosis and therapy.”
An alternative method, far less expensive but still effective, is to only sequence the coding regions of the genome, called exons, which make up 1 per cent of the total human genetic code. Approximately 85 per cent of the disease-causing mutations originate from the exome. The Illumina HiSeq2000 has the potential to sequence more than 100 per run.
The Facility will make its service available on a commercial basis to a wide variety of partners, and it is hoped to eventually operate on an international basis. Initial funding, mainly by the Wellcome Trust, supported the purchase of the sequencing instrument and other equipment as well as the recruitment of Dr Febrer, two lab assistants and a bioinformatician.
Requests to sequence human, plant, animal and microbial genomes have already been received, and Dr Febrer believes genome sequencing is a very powerful tool that will have a thriving impact on research.
“We are moving towards a situation where people could have their own genome sequenced at birth to try and identify diseases they are predisposed to or to make a diagnosis and begin treatment immediately,” she said.
“Prenatal testing using Next Generation Sequencing is increasingly being sought after, although there are obviously ethical questions that need to be addressed. This shows the incredible potential of genome sequencing in healthcare and scientific research in the future.”