RNA splicing and genetic diagnosis
MELIÃ WHITE HOUSE HOTEL
Albany Street, Regents Park
London NW1 3UP

Monday 3rd March 2008

Workshop organizers: Diana Baralle and Nick Cross

10.00	Coffee
10.30	Introduction	Nick Cross, Salisbury
10.35	Genetic diagnosis, splicing and the EURASNET Network of Excellence	Diana Baralle, Southampton
11.05	Splicing and diagnostic methodologies	Emanuele Buratti, Trieste
11.35	Analysis of BRCA and HNPCC mutations	Mario Tosi, Rouen
12.05	MCADD splicing mutations identified in newborns with an abnormal MS/MS profile	Brage Storstein Andresen, Aarhus
12.15	Survey results	Nick Cross
12.30	Lunch
14.00	UK Lab presentations     Helen White, Salisbury Colin Graham, Belfast Sian Ellard, Exeter Elizabeth Ann Price, Barts Emma Sach, Birmingham Michael Yau, Guy’s
15.00	Discussion: What next for NHS labs?
16.00	Meeting ends