Association of British Science Writers visit Centre

 

On 23rd October 2009, a group of writers from the Association of British Science Writers travelled to the Wellcome Trust Centre for Human Genetics (WTCHG) to hear from a variety of speakers on various topics related to genomics and genetics.

Attendees heard from the following speakers and were given a tour of the WTCHG laboratories.

Dr John Milton gave an introduction to sequencing technologies and an overview of how the DNA sequencing technology race has progressed in the last few years. John is VP of Research at Oxford Nanopore Technologies. He was previously at Solexa where he designed and built the Reversible Terminator chemistry that now drives the Illumina Genome Analyzer

Clive G Brown gave an overview of how to gain greater understanding of a disease through highly complex computing. Clive is VP of Development & Informatics at Oxford Nanopore Technologies. Previously Clive was at the Wellcome Trust Sanger Centre and Solexa where he led the informatics for the Illumina Genome Analyzer.

Prof George Ebers discussed his work in Multiple Sclerosis, and spoke about his studies of families with the disease and how epigenetic changes might affect the disease.

The main research interests of the Ebers Research group at the WTCHG are to investigate complex neurological diseases. The investigation of the epidemiology, genetics and environmental factors involved in these diseases has provided significant insight into disease processes . The main determinants of risk come from interaction of the genetics with the environment and they showed this in 3 ways. The first was to find the genetic region which links to the remarkable month of birth effect in MS. The second was the identification of epigenetic modifications which are mediated through the mothers DNA and her interaction with the environment and the third was the recognition that the main susceptibiilty region was regulated by the leading environmental candidate in MS namely vitamin D. All these take place in the same gene region - the major histocompatibiity complex.. The model of disease risk being determined by multiple small effects does not seem to hold true and the sum total of all gene effects outside this one region add up to less than 1%. The keys to understanding have been the recognition of epistasis (gene-gene interaction) and epigenetics. Lamarck was by no means all wrong.

Dr Silvia Paracchini gave the audience an overview of her research in dyslexia, which looks at genetic mutations that relate to the development of reading impariment and are likely to affect specific areas of the brain.

Dyslexia is a specific impairment in learning to read affecting approximately 5% of English-speaking children and it is caused in large part by genetic factors. Dr Paracchini's research has led to the identification of the KIAA0319 gene as a strong candidate for dyslexia susceptibility. The current efforts of the group, headed by Professor Anthony Monaco, aim to identify other genetic risk factors using high density association studies. Paracchini has also started a new project to investigate gene x gene and gene x environment interactions at the basis of dyslexia and co-morbid disorder, such as specific language impairment (SLI) and attention-deficit hyperactivity disorder (ADHD). For this project they are analyzing robust genetic risk factors for cognitive traits in a large cohort derived from the general population (ALSPAC cohort) which includes more than 10,500 individuals that have been extensively characterized for many cognitive and environmental measures.

Finally, Prof Julian Savulescu stimulated vigorous discussion with his talk on the ethics of genomics. He proposed that if technologies allow it, we are obliged to select for, or design, children with the best physical or even behavioural traits, so that we can give them the chance in society. A lively debate ensued...

 

Thanks to attendee Richard Scrase for this write up of the event.

If you would like to attend a future Genomics day, please email media@nanoporetech.com