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Session 8 anil_mehta
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2. 50,000 years ago F508, F508del or Phe508del We are here 2010 - 10K 3 base pairs lost on chromosome 7 in a single gene cftr Imagine the first modern human carrier of CF Fibrogenicum (- us or - a) - Population
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4. ~30,000 Registered CF in Europe CZ EuroCareCF partnered with European CF Registry ECFS EU Dundee Data Centre Legal East data hub – Milan Macek ECFS www.eurocarecf.eu Work Package 2 2006 FP6
5. Each Bar shows a 5 year age band, except last one 12% Pre-school % ~1500 Missing pre-school First school Teenage children ~ 3550
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7. Severe disease All Europe patients ALL CF 44% Common Type Phe508 Del homozygotes 96% by 10 yr 98% by 15 years 2% Phe508del homozygotes This common form arose once, presents in childhood almost always creating a marker for CF diagnostic ability and eliminates European geographic differences
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10. % of severely affected patients by age All CF patients at same age Country 1 2 Severe-common CF to All-CF ratio by age P<0.00001 P<0.000005
11. 1. McCormick et al Lancet 2010: sets the target 2. Sims et al Lancet 2007: sets the costs 3. Jagger et al Lancet 2008: sets the context All CF Common Phe508deleted form Western Europe, EU 2003 Non-EU Now we have both a target and the costs Rate of Change by succeeding decade We have a costed target
12. 50,000 years ago D F508 We are a CF legacy 2010 BC - 10K 75% died before 6 years of age Genetically fit Fibrogenicum super-survived dystentry, typhoid, pneumonia, TB, malaria etc - We should thank patients with CF for suffering on our behalf Treharne et al 2009 Febs Lett CF and smallpox
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14. Conclusion Margaret Fraser…………………..…………………. someone who knows data Gita Mehta…………………………someone who knows project management Milan Macek…………………someone who has a network (through genetics) David Sheppard…………………………………………. manage the resources Funding……………………………………….……………… EU FP6 EuroCareCF www.eurocarecf.eu www.cystic-fibrosis.org.uk SKILL MIX IS THE KEY: J McCormick MD Register SKILL MIX Standards Legal Framework
Thank the organisers of the conference for the opportunity to speak. Introduce yourself. I’d like to show you the first release of some exciting new European Registry data, and at nearly 30,000 CF patients, surely one of the biggest studies you’ll hear this week.
Thank the organisers of the conference for the opportunity to speak. Introduce yourself. I’d like to show you the first release of some exciting new European Registry data, and at nearly 30,000 CF patients, surely one of the biggest studies you’ll hear this week.
![What constitutes a simple, reliable, message for outcome in a rare disease? Cystic Fibrosis in Europe Anil Mehta FRCP FRCPCH University of Dundee, Scotland An argument for governments from the ECFRG For full details see: www.lancet.com (header section: audio; march20) ,[object Object],[object Object],[object Object]](https://image.slidesharecdn.com/session8anilmehta-100526063205-phpapp02/85/session-8-anilmehta-1-320.jpg)
