Programme 2002

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ISHG 5th Annual Scientific Meeting
11 Sep 2002

The 5th Annual Scientific Meeting of the Irish Society of Human Genetics was held on Wednesday 11th September 2002 at the Smurfit Institute of Genetics, Trinity College Dublin.


Session I

11.00 - 11.15 Mitochondrial cytopathies: a higher incidence in Ireland reflects consanguinity?
E Ryan, M King, P Rustin, P Mayne, AM Monavari, E Naughten, EP Treacy. The Metabolic Unit and The Division of Neurology, The Children's Hospital, Temple Street, Dublin and H˘pital des Enfants Malades, Paris.

11.15 - 11.30 Validation of the consensus Y chromosome deletion screening set in the Irish population
M Rogers, S Ennis, DMD Bailey, T Barrett, H Kelly, B Hughes, RF Harrison, DE Barton. National Centre for Medical Genetics & Department of Medical Genetics, Our Lady's Hospital for Sick Children and Human Assisted Reproduction Ireland, Rotunda Hospital, Dublin.

11.30 - 11.45 Quantification of gene expression in testicular tissue specimens of idiopathically infertile males
R Lavery, JA Houghton, A Nolan, M Glennon, D Egan, M Maher. National Diagnostics Centre, BioResearch Ireland & Department of Microbiology, National University of Ireland and Fertility Unit, University College Hospital, Galway.

11.45 - 12.00 Increased Interferon g concentrations in patients with recurrent foetal loss
C Keenan, J Bruneau, F Lins, W Livingstone, M O'Donovan, G Connolly, J Jackson, OP Smith. National Centre for Hereditary Coagulation Disorders & Department of Immunology, St. James's Hospital & Trinity College Dublin and The Rotunda Hospital, Dublin.

Plenary Lecture I

12.00 - 13.00 Dr. Hilary Russell (Queen's University, Belfast)
Unravelling the complexities of the septin gene family

13.00 - 14.00 Lunch + poster viewing

Session II

14.00 - 14.15 Gain of chromosome 7/7q and 11p in neuroblastoma
RL Stallings, M Mullarkey, C Breen, J Howard, A Dunlop, M McDermott, F Breatnach, A O'Meara. National Centre for Medical Genetics, Departments of Pathology & Oncology, Our Lady's Hospital for Sick Children and Conway Institute, University College Dublin.

14.15 - 14.30 Allelic gain of the Met proto-oncogene in human bladder cancer
A McCann, A McGoldrick, J Fitzpatrick, IS Pedersen, RL Stallings, M Mullarkey, J Smith, PA Dervan. Departments of Pathology & Surgery, University College Dublin and Mater Misericordiae Hospital, Dublin; Department of Clinical Biochemistry, Aalborg Hospital, Aalborg, Denmark and National Centre for Medical Genetics, Dublin.

14.30 - 14.45 Development of a tissue-specific prodrug activation vector strategy for prostate cancer
R Foley, K Molloy, M Lawler, D Hollywood. Department of Haematology and Oncology, St. James' Hospital and Department of Oncology, St. Luke's Hospital, Dublin.

14.45 - 15.00 Osteoprotegrin G1181C and VDR Fok1 polymorphisms are associated with the rate of bone loss in postmenopausal Irish women
F Wynne, KA Quane, MG Molloy, FJ Drummond. Departments of Rheumatology and Medicine, Cork University Hospital, Cork.

15.00 - 15.15 Identification of an IMPDH1 mutation in autosomal dominant Retinitis Pigmentosa (RP10)
A Aherne, A Kennan, S Bowne, SP Daiger, MM Humphries, GJ Farrar, P Kenna, P Humphries. The Ocular Genetics Unit, Trinity College Dublin 2 and Human Genetics Centre and Dept. of Ophthalmology, University of Texas, Houston.

15.15 - 15.30 Development of RNAi as a mutation independent gene therapy for Osteogenesis Imperfecta and dominant dystrophic Epidermolysis Bullosa
D Allen, HP McMahon, S Millington-Ward, PF Kenna, P Humphries, GJ Farrar. Smurfit Institute of Genetics, Trinity College Dublin.

15.30 - 16.00 Tea + poster viewing

16.00 - 16.15 ISHG AGM / business meeting

Plenary Lecture II

16.15 - 17.15 Prof. Alan Bittles (Edith Cowan University, Perth, Australia)
Consanguineous marriage: keeping the family together or genetic adventurism?

17.15 - 18.00 Reception / presentation of the prize for best poster and of the HiberGen Young Investigator Award / meeting close


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