Preliminary Programme
| Saturday, June 12, 2004 | |
| 15:45 | Opening Ceremony - Welcome |
| 16:30 |
ESHG Plenary Session P1 Chair: V. van Heyningen and T. Meitinger |
| 16.30 |
L01. Multiple Sulfatase Deficiency: Molecular defect and
properties of the missing enzyme. K. von Figura, M. Mariappan, J. Peng, A. Preußer, B. Schmidt |
| 17.00 |
L02. Biogenesis of mitochondria: Human diseases linked to
protein transport, folding and degradation W. Neupert |
| 17.30 |
L03. New aspects of genetic mosaicism R. Happle |
| 17.30 | Coffee Break |
| 18:30 |
EMPAG/ESHG Plenary P2: Regional difference in genetic
counselling and testing Chair: L. Kerzin-Storrar and C. Bartram |
| 18.30 |
L04. Regional differences in genetic testing and counselling
in Europe - An overview S. Aymé |
| 18.50 |
L05. Hereditary Breast/Ovarian Cancer risk: international
comparison of the acceptability of Preventive strategies C. Julian-Reynier |
| 19.10 |
L06. Variation in prenatal counselling in Europe: the example
of Klinefelter T. M. Marteau |
| 19.30 |
L07. Fact and Fiction Across Frontiers. Perceptions and
Attitudes of families across Europe towards genetic testing and counselling L. Greene |
| 20.00 | Welcome Reception |
| Sunday, June 13, 2004 | |
| 08:45 |
EMPAG Plenary Session EP1: Prenatal screening and testing Chair: T. Marteau, C. Julian-Reynier |
| 8.45 |
EL01. Why do pregnant women decide for or against
prenatal screening? M. van den Berg, D. R. M. Timmermans, A. J. H. Kleinveld, E. Garcia, J. T. M. van Eijk, L. P. ten Kate, D. S. de Smit, J. M. G. van Vugt, G. van der Wal |
| 9.05 |
EL02. Antenatal haemoglobinopathy screening: The role of
faith and religion S. Ahmed, K. Atkin, J. Hewison, J. M. Green |
| 9.25 |
EL03. A fourteen-year social, ethical and technical struggle
toward creating a model to prevent β- Thalassemia in Iran H. Najmabadi, A. Ghamari, F. Sahebjam, R. Kariminejad, T. Khatibi, A. Samavat, E. Mehdipour, M. Jogattaei, M. H. Kariminejad |
| 9.45 |
EL04. Multi-Center Study Shows Utility of the Beck Depression
Inventory II (BDI-II) in a Population of Advanced Maternal Age Patients (AMA) Patients J. G. Edwards, S. Hoyle, R. Abramson, J. Bacon, M. Cuccaro, E. Dempsey, C. Lovell, S. Shields, C. Singletary, V. Vincent, C. Wolpert |
| 10.05 |
EL05. Generating narratives after an adverse result from
prenatal diagnosis: program evaluation J. Rocha, A. Leonardo, M. Fernandes, C. Cruz, M. Correia, J. Sequeiros, P. Tavares, C. Paúl |
| 10.25 |
EL06. Does offering prenatal screening infl uence the
psychological well-being of pregnant women? J. H. Kleinveld, D. R. M. Timmermans, M. van den Berg, J. T. M. van Eijk, L. P. Ten Kate, D. J. de Smit, G. van der Wal |
| 10:45 | Coffee, Exhibition |
| 11.15 | Poster Viewing |
| 12:00 | EMPAG hosted lunch - Restaurant Seeblick |
| 13:15 |
ESHG Workshops including: W3 Models of service delivery: multidisciplinary clinics/approach Chair: G. Evers Kiebooms |
| 13.15 |
Introduction G. Evers-Kiebooms |
| 13.25 |
EWS01. Multidisciplinary genetic clinics for individuals with
genetic syndromes and developmental delay. K. Devriendt |
| 13.45 |
EWS02. A multidisciplinary out-patient service for
Huntington’s disease. D. Craufurd, E. Howard, J. Osborne, C. Stopford, G. Taylor, J. Thompson, T. Westhead, J. Snowden, D. Neary |
| 14.05 |
EWS03. A Multidisciplinary Approach to von Hippel Lindau
Disease S. A. Watts, S. Hodgson, S. Sutton, A. Cargill, L. Fraser |
| 15:00 |
EMPAG Plenary Session EP2: Living with a Genetic Condition Chair: H. Skirton, T. Brouwer |
| 15.00 |
EL07. Stigma in ectodermal dysplasia narratives A. J. Clarke, L. C. Howell, S. Sarangi |
| 15.20 |
EL08. Turner Syndrome: Four Challenges Across the Lifespan B. B. Biesecker, E. Sutton, A. McInerney-Leo, S. Gollust, C. Bondy |
| 15.40 |
EL09. A study of the psychosocial impact that reproductive
information has on young males living with Cystic fi brosis N. Moreton, D. Scotcher, A. Nicholas, J. Fitzjohn, H. Oxley, K. Webb |
| 16.00 |
EL10. Long-term Satisfaction with Bilateral Prophylactic
Mastectomy and Immediate Breast Reconstruction in Genetically Predisposed Women P. J. C. Bresser, C. Seynaeve, A. R. Van Gool, C. T. M. Brekelmans, E. J. Meijers-Heijboer, A. N. van Geel, M. B. E. Menke-Pluijmers, A. A. G. Claessens, H. J. Duivenvoorden, J. G. M. Klijn, A. Tibben |
| 16:30 | Coffee, Exhibition |
| 17:00 |
ESHG/EMPAG Symposium S1: Counselling and management for
genetic risk of sudden cardiac death Chair: L. Kerzin-Storrar, K. Devriendt |
|
Introduction L. Kerzin-Storrar |
|
| 17.10 |
S01. Long QT syndrome what it means to patients S. Priori |
| 17.40 |
S02. Genetic testing for Hypertrophic cardiomyopathy: how and
what in clinical practice ? P. Charron |
| 18.10 |
S03. Living with Marfan Syndrome: Perceptions of
Cardiovascular Risk and Events B. B. Biesecker, F. Kong, R. Horne, K. Peters |
| 18:40 | End of programme |
| 19:30 | State Reception and an Evening in the most famous Hofbräuhaus Beer Garden (with ESHG) |
| Monday, June 14, 2004 | |
| 08:45 |
EMPAG Plenary Session EP3: Predictive testing Chair: G. Jacopini and A. Tibben |
| 8.45 |
EL11. Outcome of non-carriers after predictive testing for
Huntington’s disease: Short-term paradoxical reactions and long-term psychological and social adjustments M. Gargiulo, S. Lejeune, K. Lahlou, A. Cardoso, A. Faudet, J. Feingold, A. Dürr |
| 9.05 |
EL12. Predictive testing for Huntington’s disease: The
relationship with the partner in the 5-year period after testing. M. Decruyenaere, G. Evers-Kiebooms, T. Cloostermans, A. Boogaerts, K. Demyttenaere, R. Dom, J. Fryns |
| 9.25 |
EL13. Predictive genetic testing for BRCA1/2 in the UK: The
long-term psychosocial impact C. Foster, R. Eeles, G. Evans, D. Eccles, S. Ashley, R. Davidson, J. Mackay, P. Morrison, P. Hopwood, M. Watson |
| 9.45 |
EL14. Predictive genetic testing for hypertrophic
cardiomyopathy (HCM) in children . I. Macciocca, A. Newson, S. M. White, T. M. Marteau, W. J. McKenna |
| 10.05 |
EL15. Genetic testing for melanoma susceptibility:
Psychosocial issues for families at high-risk. N. A. Kasparian, B. Meiser, M. Hughes, S. Job, G. J. Mann |
| 10.25 |
EL16. Hereditary melanoma and predictive genetic testing: Why
not? S. R. Riedijk, F. A. De Snoo, S. Van Dijk, W. Bergman, A. Van Haeringen, J. Walz, S. Silberg, T. M. T. Van Elderen, A. Tibben |
| 10:45 | Coffee, Exhibition |
| 11:15 | EMPAG Poster Viewing |
| 12:45 | Lunch, Poster Viewing, Exhibition |
| 13:15 |
ESHG Workshops including EMPAG
workshop: Difficult Counselling Cases Chair: H. Skirton, G. Wolff |
|
During this workshop we will be discussing challenges in
counselling, using actual cases as examples. Participants in this workshop are invited to bring a case that presented a challenge in terms of counselling. A brief description of the situation (anonymised) should be put onto one or two transparencies for use during the workshop. It may not be possible to cover all cases. |
|
| 15:00 |
EMPAG Plenary Session EP4:
Current issues and new approaches Chair: G. Wolff and R. MacLeod |
| 15.00 |
EL17. How to raise the haze of Bayes - improvement of
diagnostic inferences and of the understanding of risk by students and physicians is possible J. Pelz |
| 15.20 |
EL18. Impact of an information booklet on satisfaction,
knowledge and decision making for BRCA genetic testing J. Mancini, C. Nogues, A. Chompret, C. Cypowyj, J. Fricker, C. Lasset, A. Lortholary, T. N’Guyen, H. Sobol, D. Stoppa-Lyonnet, P. Vennin, C. M. Julian-Reynier |
| 15.40 |
EL19. Providing psychosocial care in hereditary cardiac
disorders - possible indicators of psychosocial vulnerability. E. Mollema, A. M. Schiphorst, M. E. Richard, I. M. van Langen, A. A. M. Wilde, N. J. Leschot |
| 15.50 |
EL20. A way to improve case-management in psychosocial
counselling in the day-to-day practice in Clinical Genetics - a Practice-based Instrument for Predictive Testing (PIPT). A. M. Schiphorst, M. E. Richard, A. M. Blom, E. M. A. Smets, E. D. Mollema |
| 16.00 |
EL21. Counselling Supervision for a Team of Genetic
Counsellors from the UK A. Middleton, V. Wiles, S. Downing, S. Everest, A. Kershaw, S. Robathan, H. Burton, A. Landy |
| 16.20 |
EL22. Pharmacogenetics: Ethical issues N. Rose |
| 17:00 |
EMPAG Workshop: Photogenetics - The use of the image in
genetic counselling Chair: Chris Barnes |
| 17.00 |
EWS10. Photogenetics G. Glover |
| 17.20 |
EWS05. Information leafl ets: Aiding patient understanding. T. J. Bussoli |
| 17.40 |
EWS06. Seeing Chromosomes - translating genetic information
into British Sign Language R. A. Belk, A. Middleton |
| 18.10 |
EWS07. Translating genetics leafl ets into languages other
than English: lessons from an assessment of Urdu materials A. Shaw, M. Ahmed |
| 18:30 | End of programme |
| Tuesday 15th June, 2004 | |
| 08:45 |
EMPAG Plenary P5: Family Issues Chair: M. Decruyenaere and A. Clarke |
| 8.45 |
EL23. The psychological burden of diagnostic
uncertainty for parents of disabled children W. Henn, W. Lenhard, H. Ebert, H. Schindelhauer-Deutscher, E. Breitenbach |
| 9.00 |
EL24. Genetic professionals’ reports of non-disclosure of
genetic risk information within families L. Kerzin-Storrar, A. J. Clarke, M. P. M. Richards, J. Halliday, M. Young, S. A. Simpson |
| 9.15 |
EL25. Experience of Growing up with a Sibling affected by
Down syndrome and Reproductive Choice C. J. Riddick |
| 9.30 |
EL26. Psychosocial counselling of healthy siblings in a
genetic clinic. H. Österholm, M. Pöyhönen, M. Sipponen |
| 9.45 |
EL27. Patients’ understanding of their family history of
common chronic diseases F. M. Walter, J. D. Emery |
| 10.00 |
EL28. Implications of genetic risk information in families
with a high density of bipolar disorder: An exploratory study B. Meiser, P. B. Mitchell, H. McGirr, M. Van Herten, P. R. Schofield |
| 10.15 |
Concluding remarks Evers-Kiebooms and Kerzin-Storrar |
| 10:30 | Coffee, Exhibition |
| 11.00 | EMPAG Concurrent Workshops |
| Room 04 |
EWS08. Cognitive theory and its utility in genetic
counselling R. MacLeod, A. Silver |
| Room 11 |
EWS09. A workshop on the use of non-verbal techniques in
psycho-educational group work in genetic counselling T. Brouwer, H. van Spijker, A. Blom, D. Rozendal |
| 12:45 | Lunch, Exhibition |
| 13:00 |
ESHG Plenary Session P5: Late breaking research Chair: A. Read |
| 13.00 |
LB3. Germline mutations of the Ephrin-B1 gene cause
Craniofrontonasal Syndrome I. Wieland, S. Jakubiczka, P. Muschke, M. Cohen, H. Thiele, K. L. Gerlach, R. Adams, P. Wieacker |
| 13.15 |
LB2. A Molecular Pathogenesis for Transcription Factor
Associated Poly-Alanine Tract Expansions A. N. Albrecht, U. Kornak, A. Böddrich, K. Süring, R. Lurz, S. Stricker, E. Wanker, S. Mundlos |
| 13.30 |
LB1. NIPBL, encoding a homologue of fungal Scc2-type sister
chromatid cohesion proteins and Drosophila Nipped-B, is mutated in Cornelia de Lange syndrome. E. T. Tonkin, T. J. Wang, S. Lisgo, M. J. Bamshad, T. Strachan |
| 13:45 | ESHG Award lecture by B. Horsthemke |
| 14:45 |
Awards ESHG Award Isabelle Oberlé Award Lodewijk Sandkuijl Prize |
| 15:15 | Closing Ceremony |
| 15:30 | End of the meeting |
EMPAG Scientific Programme Commitee
Chris Barnes (London)
Gerry Evers-Kiebooms (Leuven) (co-chair)
Gioia Jacopini (Rome)
Claire Julian-Reynier (Marseilles)
Lauren Kerzin-Storrar (Manchester) (co-chair)
Ewold Sikkens (Groningen)
Gerald Wolff (Freiburg)