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.
- 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
Unravelling the complexities of the septin gene family
13.00 - 14.00 Lunch + poster viewing
14.00 - 14.15 Gain of chromosome 7/7q and 11p in
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
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
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