Mon 6th February 2017 – Frank Ratcliff & Catherine Mercer – Wessex AHSN – “The 100,000 genomes project; would you have your genome sequenced?”
The 100,000 Genomes Project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer. Significantly, this is currently the largest national sequencing project of its kind in the world.
The aim is to create a new Genomic Medicine service for the NHS, transforming the way people are cared for. As a result of the project, genetic diagnoses will be made for some patients where this hadn’t previously been possible. In time, there is also the potential for new and more effective treatments for diseases with a genetic basis.
The project will also enable new medical research. Combining genomic sequence data with medical records is a ground-breaking resource. Researchers will study how best to use genomics in healthcare and how best to interpret the data to help patients. Using the 100,000 Genomes Project as a foundation, the aim is also to realise the potential of the UK genomics industry. This talk will explore the project, and ask the question; “Would you have your genome sequenced?” wessexahsn.org.uk/ @WessexAHSN
Mon 2nd January 2017 – Helena Lee – University of Southampton – “Targeting abnormal retinal development in early childhood: Can we treat visual impairment before it is a problem?”
In adults, optical coherence tomography (OCT) retinal imaging technology has revolutionised the diagnosis and treatment of degenerative retinal diseases. Infants and young children have been deprived of this technology until the recent development of hand-held OCT (HH-OCT) technology. Using HH-OCT we can monitor in vivo retinal development and investigate the natural history of retinal conditions such as colour blindness and albinism which are known to affect infants and young children, resulting in visual impairment in early childhood. Helena will be discussing her research and the implications for treating sight loss in infants and young children.
Dr Helena Lee is an Academic Clinical Lecturer in Ophthalmology at the University of Southampton and Southampton General Hospital. She is specialising in paediatric and neuro-ophthalmology, and her research interests lie in the area of normal and abnormal retinal development. She was awarded the 2015 Fight for Sight Award for her work describing normal in vivo foveal development in infants and young children using hand-held OCT. She has also investigated the effects of colour blindness and albinism on foveal development and is continuing to carry out research into retinal developmental disorders with the aim of identifying novel therapeutic targets and translating these into clinical practice.