Scientific Programme

Provisional programme for the joint ACC/CMGS day is online at the CMGS website

MONDAY 12^th APRIL 2010

8.30 - 9.00	REGISTRATION AND COFFEE
9.00 - 9.10	WELCOME – Kim Smith
SESSION 1 9.10 – 10.30
9.10 - 9.25	A summary of X chromosome imbalances and an account of three families with duplications, detected by oligo array-CGH at the Wessex Clinical Genetics Laboratory. Morag N Collinson Salisbury
9.25 - 9.40	MLPA testing as a replacement for culture and karyotyping of tissue samples referred following pregnancy loss / fetal malformations. M Edwards NW Thames
9.40 - 9.55	Multi-platform comparison for array-CGH hardware and software for use in diagnostic constitutional applications. Shuwen Huang Salisbury
9.55 - 10.10	Solid Tissue Diagnostic Service: a strategy for the future? Mary Glancy Edinburgh
10.10 - 10.30	Invited Speaker Dr Sam Knight, Principal Investigator for the NIHR Biomedical Research Centre, Oxford
10.30 - 11.00	TEA/COFFEE BREAK, POSTERS AND TRADE STANDS
SESSION 2 11.00 - 12.35
11.00 - 11.30	ACC AGM
11.30 - 11.50	Invited speaker Dr Helen White, National Genetics Reference Laboratory (Wessex)
11.50 - 12.05	Unintentional ‘stem cell transplant’ following a liver transplant in a patient with monosomy 7 AML. Paula Page Birmingham
12.05 - 12.35	Invited speaker Dr Paresh Vyas, Consultant Haematologist, Oxford Radcliffe Hospitals
12.35 -2.15	LUNCH, TRADE & POSTER SESSION
SESSIONS 3 & 4- Parallel Trainee Scientist presentations 2.15 - 3.15
2.15 - 2.30	Investigation into the use of BlueGnome CytoChip FOCUS haematology arrays in the analysis of acute leukaemia samples. Helen Stokes Bristol	Investigating the value of MLPA to explore distinct chromosomal regions in fifty-five patients with normal TUPLE1 signal patterns and DiGeorge-like phenotypes. Helen Battersby Leeds
2.30 - 2.45	Dual platform genome wide microarray analysis of childhood acute lymphoblastic leukaemia (ALL) patients with a normal karyotype and patients with a hyperdiploid karyotype. E Atack Sheffield	Optimisation of DNA extraction from solid tissue samples for the implementation of a new QF-PCR and MLPA service. Kathryn Jones Manchester
2.45 - 3.00	The use of array CGH for the detection of copy number changes in patients with Uveal Melanoma. Julia Killender Liverpool	Validation of the Elucigene QSTR plus kit for QF-PCR of tissue samples from pregnancy loss. Jennifer Carter Great Ormond St, London*
3.00 - 3.15	An investigation to determine the most effective method for detecting clonal abnormalities in Chronic Lymphocytic Leukaemia. Lorna Williams Oxford	An investigation into maternal cell contamination in tissues cultured from the placenta. Colette Parker Newcastle
3.15 - 3.45	TEA/COFFEE BREAK, POSTERS AND TRADE STANDS
SESSION 5 3.45 - 4.45
3.45 - 4.00	Rare single gene CNVs in fetuses with abnormal ultrasound: Follow up sequence analysis. M Tyreman Cambridge
4.00 - 4.15	15q11.2 microdeletions between breakpoint 1 (BP1) and breakpoint 2 (BP2); what is their clinical significance? Mark Bateman Salisbury
4.15 - 4.45	Invited speaker Dr Edward Blair, Consultant Clinical Geneticist, Oxford Radcliffe Hospitals
	CONFERENCE BANQUET, KEBLE COLLEGE with Jazz band and speaker

TUESDAY 13^th APRIL 2010

8.45 - 9.00	REGISTRATION
SESSION 6 9.00 - 10.30
9.00 - 10.15	Bioinformatics workshop Andrew Devereaux (NGRL (Manchester)) & Dom McMullan (Birmingham)
10.15 - 10.30	Current developments in DH, NHS CFH and NHS IC. Prof Gifford Batstone National Clinical Lead for Pathology Office of the Chief Clinical Officer NHS Connecting for Health
10.30 - 11.00	TEA/COFFEE BREAK, POSTERS AND TRADE STANDS
SESSIONS 7 & 8 Parallel Trainee Scientist presentations 11.00 - 12.15
11.00 - 11.15	Implementation of the Nimblegen 135K whole genome array as a frontline diagnostic tool. Caroline Murray Edinburgh	Implementation of a Fully Automated Slide Scanning System at the West Midlands Regional Genetics Laboratory. Lauren Jones Birmingham
11.15 - 11.30	Evaluation of the use of Oligonucleotide arrays 4x44K CytoChip-Oligo and CytoChip-Oligo ISCA for diagnosis of the constitutional imbalances. Olivera Spasic-Boskovic GOS	A Comparison between the Hanabi-PIII robotic harvester and the manual harvest of prenatal samples in a Cytogenetic laboratory. Remi Oke Guys
11.30 - 11.45	A comparison of DNA extraction methods across a range of sample types and the suitability of DNA for use on an oligonucleotide array-CGH platform. Alison Mills Oxford	Evaluating different methods of follow up for array abnormalities when conventional FISH probes do not work. Elizabeth Alexander Oxford
11.45 - 12.00	The investigation of phenotypically abnormal patients with unbalanced and "balanced" chromosome rearrangements using arrayCGH. G. Hall Birmingham	Optimisation of MLPA for Neuroblastoma patients using the MRC Holland kit. Amy McAlpine Leeds
12.00 - 12.15	Application of BlueGnome’s Constitutional Focus CytoChip in Prenatal Diagnosis. Fiona S Togneri Birmingham	Optimisation of the MetaCyteTM Scanner for use with the Kreatech P53/ATM Probe in CLL. Josie Innes Birmingham
12.15 - 2.15	LUNCH AND POSTERS PLUS TRADE SCIENTIFIC PRESENTATIONS at 1.15pm from: Abbott Laboratories Ltd, Oxford Gene Technology, Affymetrix and Agilent.
SESSION 9 2.15 - 3.20
2.15 - 2.35	Invited speaker Chris Mattocks, National Genetics Reference Laboratory (Wessex)
2.35 - 2.50	Hypermethylation of tumour suppressor genes in gliomas. K Rankeillor Leeds
2.50 - 3.20	Invited speaker Prof Tariq Enver, MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford
3.20 - 3.50	TEA/COFFEE BREAK, POSTERS AND TRADE STANDS
SESSION 10 3.50 - 5.00
3.50 - 4.05	Evaluation and Implementation of the Use of Array CGH on Recurrent Early Miscarriage Samples. Anna Topping Liverpool
4.05 - 4.20	The GSL-120 automated scanner: The St George’s Experience. Victoria J Anthony-Dubernet St. George’s
4.20 - 5.00	Invited speaker Professor Sir John Burn, Medical Director, Institute of Human Genetics, Newcastle
5.00	Prize presentations Close