Evaluation Consent 2019-2024 Form

Instructions and help about N1A Revised 112019 N1A Revised 112019

thank you for the invitation I'm going to talk about a project that we've been doing based in Cambridge to really pilot thinking how we're going to provide rapid sequencing for severely ill children both in NICU and PICU and in particular we we need to think about this within a National Health Service and trying to provide some affordable version of this platform so I this is hardly the audience to to inform you're well informed about how common rare diseases are but actually I think we probably less clear about how many of children die within the first year of life 35% to children die within the first year and a further 30% then die within the first five years so there's a very large proportion of rare diseases of presenting extremely young and have a very poor prognosis and we need to start thinking about really a bit smarter about early diagnosis and therefore treatments and of course these are relatively jointly are common so in the UK we have just over half a million deliveries pe