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Event - Best practice meeting: Neurofibromatosis Type 1 |
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When
- Wednesday 16 June 2010
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Where
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Cardiff, Wales
United Kingdom
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Contact
What
Joint CMGS/EMQN Laboratory Best Practice meeting for Neurofibromatosis Type 1. EMQN and EuroGentest are offering travel awards for the meeting.
Meeting funded by Department of Health / UKGTN
Travel awards available from EuroGentest / EMQN
Hosted by All Wales Medical Genetics Service In conjunction with The Wales Gene Park
PLEASE RETURN YOU REGISTRATION DOCUMENTS BY THE 1st MAY 2010
Agenda
| 9.00-9.30 | Registration |
| 9.30 |
Welcome and Introduction:
Prof Meena Upadhyaya (Cardiff) |
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Invited speaker session
Chairperson: Prof Meena Upadhyaya |
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| 9.40 | Prof Ludwine Messiaen (Birmingham, Alabama) "Molecular dissection of NF1 and clinical subtypes" |
| 10.10 | Dr Conxi Lázaro (Barcelona) "Nature and mRNA effect of different NF1 point mutations: focus on splicing alterations" |
| 10.20 | Prof Meena Upadhyaya (Cardiff) "Molecular basis of disease in NF1 like patients" |
| 10.30 | Prof Dominique Vidaud (Paris) "Genotype/phenotype correlations in NF1: A study of 579 families recruited through a French program research" |
| 10.45 | Discussion & questions |
| 11.00 | COFFEE BREAK |
| 11.15 | Dr Diana Baralle (Southampton) " A clinicians expectation of a laboratory report" |
| 11.30 | Dr Andre Blavier (Interactive Biosoftware) "The RefSeqGene/LRG genomic sequence standards" |
| 11.45 | Discussion & questions |
| 12.00 | LUNCH |
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Best Practice workshop session:
Chairpersons: Prof Ludwine Messiaen & Dr Simon Ramsden |
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| 13.00 | Summary/Feedback from Questionnaire Topics for the group discussion will be based on and around issues arising from the questionnaires |
| 13.15 | Best Practice Workshop: group discussions |
| 14.15 | Presentation of group discussions |
| 15.00 | COFFEE BREAK |
| 15.15 | Drafting of Best practice guidelines |
| 16.30 | CLOSE |
Travel awards
- Eurogentest and EMQN have funding available for the travel and accommodation cost to the NF1 meeting for one delegate per European Union member country.
- To apply for travel award, please register your interest to attend the meeting by 1st of May with Angela Burgess (burgessam@cf.ac.uk). After this date, the EMQN staff will review all the expressions of interest for travel awards and in the case where more than one scientist wishes to attend the meeting from your country, EMQN national partner will select the most appropriate person. Confirmations for successful applicants will be send out after the 14th of May 2010.
