Session 3:
Guest Speaker
|
|
15.45 16.30 |
DNA sequencing: a generation game |
|
|
Dr
John Milton - Oxford Nanopore |
|
|
|
Session 4:
Next Generation Sequencing
Chair: Dr Jenny
Taylor
|
|
16.30 |
SP13 - The Locus Reference Genomic (LRG) DNA
sequence format for LSDBs |
|
|
Dr
Raymond Dalgleish Department of Genetics,
University of Leicester |
|
16.45 |
SP14 - Genetic Diagnosis Using Clonal Sequencing |
|
|
Dr
Graham Taylor Institute of Molecular Medicine,
University of Leeds |
|
17.00 |
SP15 - Sample preparation for next generation
sequencing a molecular diagnostics perspective |
|
|
Jonathan Coxhead Newgene Limited, Newcastle |
|
17.15 |
SP16 - A 454 Next Generation Sequencing
Diagnostic Test for Mutations Predisposing for
Hypertrophic Cardiomyopathy and Dilated
Cardiomyopathy |
|
|
Kulvinder Kaur Wellcome Trust Centre for Human
Genetics, Oxford |
|
17.30 |
SP17 - Presentation on Next Generation
Sequencing |
|
|
Roche Diagnostics Limited |
Tuesday 13th
April 2010
|
Session 5:
Trainee presentations Service Related
Chair: Dr Sarah Warburton
|
|
9.15 |
SP18 - Axenfeld-Rieger Syndrome - A New UKGTN
Service |
|
|
Kenneth Smith Bristol Genetics Laboratory |
|
9.30 |
SP19 - Validation of a novel mutation screening
strategy for Familial Hypercholesterolaemia:
LIPOchipฎ, a DNA-array based system |
|
|
Jonathan Callaway Wessex Regional Genetics
Laboratory |
|
9.45 |
SP20 - The development of a diagnostic service
for familial exudative vitreoretinopathy (FEVR) |
|
|
Eilidh Jackson Yorkshire Regional DNA
Laboratory, Leeds |
|
10.00 |
SP21 - Identification of mutations in a novel
gene for Micro syndrome in a cohort of
international patients |
|
|
Frances Bond West Midlands Regional Genetics
Laboratories, Birmingham |
|
10.15 |
SP22 - Analysis of the Glucocerebrosidase (GBA)
and GTP Cyclohydrolase-1 (GCH1) genes in a UK
cohort of familial Parkinsons disease patients |
|
|
Piers Fulton West Midlands Regional Genetics
Laboratories, Birmingham |
|
10.30 |
SP23 - Evaluation of the genetic impact on
inflammatory bowel disease |
|
|
Natalie Bibb North West Thames Genetics
Laboratory (KGC) |
|
|
|
|
|
|
Session 6:
Service related
Chair: Roger
Mountford
|
|
11.15 |
SP24 - Expanded PLA2G6 Copy Number
Variant Analysis in Patients with Infantile
Neuroaxonal Dystrophy (INAD) |
|
|
Danielle Crompton West Midlands Regional
Genetics Laboratories, Birmingham |
|
11.30 |
SP25 - A review of the Wilson Disease service
over the past 15 years. |
|
|
Miranda Durkie Sheffield Diagnostics Genetics
Service |
|
11.45 |
SP26 - Unexpected de novo mutations 2 case
studies |
|
|
Sheila Palmer-Smith All Wales Molecular
Genetics Laboratory, Cardiff |
|
12.00 |
SP27 - An elusive expansion at the FRDA locus |
|
|
Claire Healey
Cheshire
and Merseyside Regional Molecular Genetics
Laboratory,
Liverpool |
|
12.15 |
SP28 - Congenital Central Hypoventilation
Syndrome; a polyalanine repeat disorder-the UK
cohort. |
|
|
Sarah Burton-Jones Bristol Genetics Laboratory |
|
12.30 |
SP29 - Genome wide SNP analysis leads to the
identification of compound heterozygous
mutations in a pedigree with multiple
pregnancies affected with short rib polydactyly
type III |
|
|
Professor Sian Ellard Department of Molecular
Genetics, Exeter |
|
12.45 |
UK
NEQAS Participants meeting
To
include a debate on Should
Molecular Genetics NEQAS tests be done in real
time . |
|
|
|
Session 8:
Pharmacogenetics
Chair: Dr Ian
Frayling
|
|
14.45 |
SP30 - Implementing a K-RAS mutation
testing service for colorectal cancer |
|
|
Catherine Faulkes Molecular Biology
Department, Royal Surrey County Hospital |
|
15.00 |
SP31 - Analysis of a subgroup of patients with
uveal melanoma in a Phase II clinical trial of
AZD6244 (ARRY-142886) vs temozolomide. |
|
|
Mireille Cantarini Astra Zeneca
Pharmaceuticals |
|
15.15 |
SP32 - Temozolamide treatment in Glioblastoma
Multiforme (GBM) correlated with MGMT
methylation status. Translation of the EORTC/NCIC
trial into routine clinical practice in the UK.
A clinical audit of 66 cases |
|
|
Chris Herbert Bristol Genetics Laboratory |
|
|
|
|
|
|
Session 9:
Bioinformatics and Investigating Pathogenicity
Chair: Dr Steve
Abbs
|
|
16.00 |
SP33 - Analysis of mis-sense pathogenicity and
splicing defect prediction tools for use in the
clinical laboratory |
|
|
Elizabeth Hellen NGRL Manchester |
|
16.15 |
SP34 - Informatics Projects at NGRL Manchester |
|
|
Glen
Dobson NGRL Manchester |
|
16.30 |
SP35 - Caf้ for Routine Genetic Data Exchange
(Caf้ RouGE) |
|
|
Professor Anthony Brookes Department of
Genetics, University of Leicester |
|
|
|
Session 10:
Investigating Mutation Pathogenicity
Chair: Dr David
Cockburn
|
|
16.45 |
SP36 - Stickler Syndrome: from Research to
Diagnostic Service and vice versa |
|
|
Allan Richards East Anglian Medical Genetics
Service, Cambridge |
|
17.00 |
SP37 - Mitochondrial transfer RNA gene mutations
proving pathogenicity and understanding
transmission |
|
|
Emma
L Blakely NCG Rare Mitochondrial Disorders of
Adults and Children Service, Newcastle
|
|
17.15 |
SP38 - Genetic analysis of the rare non-HFE
genes, Ferroportin, Hemojuvelin, Hepcidin, and
Transferrin Receptor 2 in patients negative for
the common HFE mutations |
|
|
Patricia Bignell Oxford Haemophilia &
Thrombosis Centre |
|
|
Wednesday 13th April 2010
|
Scientific
Session
Chair:
Dr Fiona Macdonald
|
|
9.00 |
JS1 - FLT3 and NPM1 Testing in
Acute Myeloid Leukaemia (AML) |
|
|
Louise Stanley Northern Genetics Service,
Newcastle |
|
9.15 |
JS2
- Implementation of a quantitative/real-time PCR
service for the confirmation of copy number
changes following array CGH analysis - review of
results to date |
|
|
Carol Delaney SE Scotland Cytogenetics
Laboratory, Edinburgh |
|
9.30 |
JS3
- Process redesign in preparation for the
implementation of a laboratory information
management system (LIMS) |
|
|
Carolyn Tysoe Molecular Genetics Department,
Exeter |
|
9.45 |
JS4 - Integrating Molecular Pathology Services
in the West Midlands |
|
|
Jennie Bell W Midlands Genetics Laboratories,
Birmingham |
|
10.00 |
JS5
- Clinical Coding Project at NGRL Manchester |
|
|
Maja
Milicic-Brandt NGRL Manchester |
|
10.15 |
JS6
- Can Copy Number by Sequencing Replace Array
CGH? |
|
|
Kelly Cohen Institute of Molecular Medicine,
University of Leeds |
