Rare diseases affect fewer than 5 in 10,000 of the general population in the UK (EU definition). There are over 6000 recognised rare diseases which, are often chronic and life-threatening and have an enormous impact on the lives of patients and their families. At some point in their lives, it is estimated that 7% (4.2million) of the UK population will be affected by a rare disease.This meeting will examine the genetic information that predisposes an individual to a rare disease; explore the mechanisms of rare disease and introduce examples of current personalised medicine and therapeutic approaches.
Programme
14:00 Welcome and opening remarks Philip Beales, UCL
14:10 Tess Harris, President, PKD International -‘Personal Experiences of Living with Rare Diseases’Introduction to genomics and personalised medicine
14:40 Tim Aitman, Imperial College London – ‘The new genomics and precision medicine’Genetics/Genomics
15:00 Nick Wood, UCL – ‘Genetics of rare neurodegenerative diseases’
15:20 Michael Simpson, King’s College London – ‘Genomics and Rare Diseases’
15.40 BreakFunctional Biology16:10 Veronica van Heyningen, University of Edinburgh Western General Hospital – ‘Genes and Mechanisms in Developmental Eye Disease’
16:30 Matt Hurles, Wellcome Trust Sanger Institute – ‘Deciphering Developmental Disorders’Therapeutics and Personalised Medicine
16:50 Fran Platt, University of Oxford – ‘Development of a small molecule therapy for lysosomal disorders’
17:10 Francesco Muntoni, UCL ‘RNA therapies of neuromuscular diseases’
17:30 Concluding Remarks
17:45 Drinks reception
The event is free to attend but you must register at http://cricksymp6.eventbrite.com/