European Society of Human Genetics EUROPEAN. Human Genetics CONFERENCE International Convention Centre Birmingham, England

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European Society of Human Genetics EUROPEAN Human Genetics CONFERENCE 2003 International Convention Centre Birmingham, England Saturday, May 3 Tuesday, May 6, 2003 Call for Papers Scientific Programme Conference Information Registration CLOSING DATE FOR ABRACT SUBMISSION: JANUARY 13, 2003 Conference Website: www.eshg.org/eshg2003

Administration ESHG 2003 Venue The International Convention Centre ICC Broad Street, Birmingham B1 2EA, England Tel: +44 121 200 2000 Local Host: Fiona Macdonald Exhibition, Sponsoring and Commercial Satellites Rose International Exhibition Management and Congress Consultancy bv Ms Jana Petrova P.O. Box 93260, NL-2509 AG The Hague, The Netherlands Tel: +31 70 383 8901 Fax: +31 70 381 8936 Email: jpetrova@rose-international.com Website: www.rose-international.com Administrative Office European Society of Human Genetics Clinical Genetics Unit Birmingham Women s Hospital UK-B15 2TG Birmingham, United Kingdom Tel/Fax: +44 121 623 6830 Email: eshg@eshg.org Website: www.eshg.org Conference Organisation: ESHG 2003 Secretariat Mr. Jerome del Picchia Vienna Medical Academy Alser Strasse 4, A-1090 Vienna, Austria Tel: +43 1 405 13 83 22 Fax: +43 1 407 82 74 Email: eshg@medacad.org Website: www.medacad.org Hotel Accommodation Birmingham Convention Bureau Millenium Point, Level L2, Curzon Street Birmingham B4 7XG, England Tel: +44 121 202 5005 Fax: +44 121 202 5123 Email: piazza@marketingbirmingham.com Website: www.birmingham.org.uk Executive Board 2002 2003 President: Gert-Jan van Ommen Vice-President: Stylianos Antonarakis President-Elect: Prof Veronica Van Heyningen Secretary-general: Peter Farndon Deputy secretary-general: Lisbeth Tranebjaerg Chair: Andrew P. Read Han Brunner Francoise Clerget-Darpoux Dian Donnai Cornelia van Duijn Karl-Heinz Grzeschik Jean-Louis Mandel Fiona Macdonald Scientific Programme Committee Andres Metspalu Arnold Munnich Gudrun A. Rappold Niels Tommerup Gert-Jan van Ommen Andrea Reis Orsetta Zuffardi Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

Welcoming Address ESHG 2003 Dear Colleagues Welcome to Birmingham, Britain s friendly second city, located in the heart of England. Birmingham is excellently served by motorways, rail, and an international airport. The conference is being held in the ICC which is in the centre of the city, with most conference hotels within a few minutes walk. Although Birmingham began as a market town, it became the birthplace of the Industrial Revolution. The canals which once brought coal and metal are now focal points for restaurants, bars and coffee houses. They provide comfortable spots opposite the Convention Centre to sit and discuss the day s scientific highlights. The city is rich in history and the arts. The City Museum and Art Gallery house a magnificent collection of Pre-Raphaelite art including works by Rossetti, Millais, Holman Hunt and Burne-Jones - himself a native of the city. Amongst our famous authors is JRR Tolkien, who used his childhood memories of Birmingham s greener parts as inspiration for settings in The Lord of The Rings. The Symphony Hall, located within the ICC and widely acclaimed as one of the best concert halls in the world, houses the famous City of Birmingham Symphony Orchestra. On a less classical note, the city hosts rock concerts, counting amongst its sons members of Black Sabbath, Electric Light Orchestra and Led Zeppelin. For chocoholics, a visit to Cadbury World is recommended. Birmingham is also the home of the Balti - if you have not experienced this Indian dish, order up a table nan to share with a Balti of your choice. Indeed, the wide variety of foods, music and dance reflects the truly multicultural nature of the city, with Indian, Pakistani, West Indian and Chinese populations, amongst others. The ethnic diversity adds an interesting and at times complex dimension to the genetics of the area. Genetics has a place in the centre of the city: the figures outside the ICC reflecting the march of Birmingham from its industrial past into the future is led by Birmingham trained Maurice Wilkins, Nobel prize winner for his work on DNA spot the structure on his shoulder! The science museum (with an innovative interactive human genetics exhibit) is housed in a new building in an area of the city destined to become a learning centre. It also looks to the future whilst celebrating Birmingham s industrial past. The University of Birmingham and the city s hospitals have international reputations in patient care and medical research. In particular, the research and clinical genetics communities are thriving, serving the 5.5 million population of the West Midlands with the largest genetics service laboratory in Europe. Research strengths include genetic aspects of cancer, epigenetics and identifying disease genes by autozygosity mapping. Our predecessors include John Edwards (who described trisomy 18 here), Sarah Bundey, Maj Hulten and before them Lancelot Hogben. Join us for an excellent scientific programme in the heart of a vibrant and exciting city. If you can spare a few extra days, visit Shakespeare s birthplace just down the road at Stratford or the Cotswolds or the Peak district. We look forward to seeing you in 2003 - or as a native Brummie would say Taa Raa a bit! Fiona Macdonald Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

Scientific Programme ESHG 2003 Saturday, May 3, 2003 15.00-15.30 Opening Ceremony 15.30-17.00 P1 Opening Plenary Session B. Ponder (Cambridge): Low penetrance genes and cancer susceptibility N. Hastie (Edinburgh): Life, sex and WT1 Speaker to be advised 17.30-18.45 P2 Plenary: Public Issues: Population DNA Banks A. Metspalu (Tartu): Issues in setting up population DNA collections A. Cambon (Toulouse): A survey of practices in biobanking in Europe R. Zimmern (Cambridge): What use are population DNA collections? 19.00 Welcome Reception Sunday, May 4, 2003 8.45-10.45 P3 Plenary: Recent Developments in Neurogenetics M. Gardiner (London): Genetic epilepsies T. Voit (Essen): Congenital muscular dystrophies D. Turnbull (Newcastle): Title to be advised 11.15-12.45 Workshops W1-W4 W1: Syndrome identification (Dian Donnai + Robin Winter) W2: Cytogenetics (Orsetta Zuffardi + Niels Tommerup) W3: Issues in counselling (Lauren Kerzin-Storrar + Gerry Evers-Kiebooms) W4: Genotyping and mutation detection arrays Practical problems (Andres Metspalu) 14.30-16.00 Concurrent Sessions C1 - C3 Spoken presentations from submitted abstracts 16.30-18.00 Concurrent Symposia S1 - S3 Bioinformatics (G. Borsani, E. Wingender) Stem Cells (J. Harris) Sensory Genetics (C. Petit, S. Brown, T. Whitfield) 20.00 Conference Party Monday, May 5, 2003 8.45-10.45 P4 Plenary: Limb development C. Tickle (Dundee): Overview on limb development P. Heutink (Rotterdam): Polydactyly S. Mundlos (Berlin): Brachydactyly 11.15-12.45 Workshops W5-W8 W5: Syndrome identification (Dian Donnai + Robin Winter) W6: Quality control (Els Dequeker) W7: Prenatal cytogenetics (Val Davison) W8: Community Genetics (Leo ten Kate) 14.30-16.00 Concurrent Sessions C4 - C6 Spoken presentations from submitted abstracts 16.30-18.00 Concurrent Symposia S4 - S6 SNPs and haplotypes (D. Cox, R. Villems, F. Cambien) Chromosomes in genetic disease (K. Devriendt, C. van Raavenswaay, R. Tupler) Genetics and endocrine problems (S. O Rahilly, I. Huhtaniemi) Tuesday, May 6, 2003 8.45-10.15 Concurrent Symposia S7 - S9 Alternative splicing (A. Krainer, G.-J. van Ommen) Cancer Genetics (P.-G. Pelicci) Alzheimer disease (C. van Duijn, K. Beyreuther) 10.45-12.15 Concurrent Sessions C7 - C9 Spoken presentations from submitted abstracts 13.15-14.45 P5 Plenary Session - Late-breaking research presentations - ESHG lecture - Award of prizes - Closing ceremony Further details of the programme and speakers: www.eshg.org/eshg2003 Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

Abstract submisson ESHG 2003 Spoken and Poster Presentations The Scientific Programme Committee (SPC) invites abstracts to be considered for inclusion in the programme. Abstracts can be submitted only online on the website www.eshg.org/eshg2003. Detailed instructions are given below and on the website. Please note that you can be co-author of any number of abstracts, but first (i.e. presenting) author of only one abstract. Deadline for Abstract Submission: January 13, 2003. Guidelines for Online-Abstract Submission First Time Users: 1. When entering the site, hit Click here to create a new account on the left. 2. Fill in all required fields and save your personal information by clicking Continue on the online form. 3. Locate ESHG 2003 in the Meeting Selection and click on New Submission. 4. Carefully follow the step-by-step instructions. Returning users, continuing an aborted submission or editing an abstract already submitted: 1. Login with the username and password that you received when creating the account. 2. Locate ESHG 2003 in the Meeting Selection and click on the displayed abstract to be changed or completed. 3. Continue your submission or click on desired menu item you wish to change. Returning users, submitting another abstract: (but please remember you may be presenting author on only one abstract) 1. Login with the username and password that you received when creating the account. 2. Locate ESHG 2003 in the Meeting Selection and click on New Submission. 3. Carefully follow the step-by-step instructions. General Information on Abstract Submission and FAQ Browser Issues The system is optimised for MS Internet Explorer 6.0. Some advanced features will be available only with this browser. However, submission is possible with other browser versions (Internet Explorer and Netscape) 4.0 and up. Cookies must be enabled on your system Account management - Personal Information - Password Please create only one account per submitting author. The system stores your information. If you choose to submit more than one abstract you will not need to create another account. See Returning users. If you submitted an abstract at last year s ESHG meeting, your username and password are still valid. Personal information can be edited if necessary by clicking the Profile icon (e.g. in case of an address change). Attention: All correspondence regarding the acceptance of your abstract will be mailed to the address given by you in the profile section. Please complete all the fields accurately. After you created the account, the system will display a password and username that will allow you to return and edit, delete or withdraw your abstract. Formatting The text should not exceed 250 words, excluding title and authors A maximum of two institutions per author is allowed. Tables may be included. No graphics are allowed Meeting Selection - Corrections - Withdrawal Make sure you choose ESHG 2003 in the Meeting Selection. Abstracts submitted for other meetings in the listing cannot be reviewed! Titles of submitted abstracts are displayed in the Meeting Selection, together with the information on whether the submission is complete or incomplete. To edit one of these abstracts, simply click on the title. Changes and withdrawals can be made until the deadline of January 13, 2003. The submission system stores the information in real time. The moment you reach the Summary within the submission process and the system tells you This submission is complete your abstract is completed and has been received. However you will still be able to come back and make modifications until the deadline. Please make sure you print the summary page for your records. Support For support during the submission process, please send an email to eshg@medacad.org or call +43 1 405 13 83 22 between 9.00-17.00 hrs CET. Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

Abstract submisson ESHG 2003 Topics One topic must be selected from the following: Cancer Genetics Clinical Genetics and Dysmorphology Cytogenetics Prenatal and Perinatal Genetics Gene Structure and Function Genetic Counselling and Genetic Education Genetic Epidemiology and Population Genetics Genetic Services, Genetic Screening, and Public Policy Genomics and Bioinformatics Inborn Errors of Metabolism and Biochemical Genetics Linkage Mapping and Polymorphism Analysis of Disorders and Traits with Complex Inheritance Molecular Basis of Mendelian Disorders Therapy for Genetic Disorders Molecular Basis of Development Other New to Blackwell Publishing for 2003 human ANNALS OF genetics Published on behalf of University College London Reduced subscription rates for ESHG and ASHG members: 70 or $105 Please visit the Blackwell Publishing stand at the ESHG Conference where Annals of Human Genetics will be displayed along with other Blackwell Publishing journals and books in Genetics. 20% conference discount on all books displayed at the conference Free sample copies of our journals and leaflets with further information A Blackwell Publishing representative on hand to answer any queries or comments you may have relating to our books and journals www.blackwellpublishing.com

ESHG 2003 May 3 6, 2003, Birmingham England CONGRESS REGIRATION FORM Please return before April 18, 2003 Please complete in capital letters and return to: ESHG 2003 c/o Vienna Medical Academy Alser Strasse 4, 1090 Vienna, Austria Tel.: +43 1 405 13 83 14 - Fax: +43 1 407 82 74 - E-mail: eshg-registration@medacad.org Online registration: http://www.eshg.org/eshg2003 Last name First Name Title Institution/Department/Hospital Address ZIP Code City Country Phone Fax E-mail Please tick here if you do not wish your data to be forwarded to exhibiting companies on request. REGIRATION FEES (in EURO) Payment Received: before February 28, 2003 after February 28, 2003 ESHG Members* EUR 250.- EUR 350.- Non-Members EUR 360.- EUR 460.- Students ** EUR 130.- EUR 160.- Accompanying Person(s) Persons @ EUR 80.- * Participants having applied for ESHG membership and who have paid their contribution may pay the Member's fee. Membership information is available at www.eshg.org. ** Please provide a copy of a Student's ID or a confirmation signed by the head of department by fax to +43 1 407 82 74 or together with the hardcopy of the registration form. SOCIAL EVENTS Saturday, May 3, 2003, 19.00 hrs Welcome Reception at the ICC Sunday, May 4, 2003, 19.30 hrs Conference Party at the ICC Person(s) Person(s) No Fee, but registration is necessary EUR 47.- (Regular) EUR 29.- (Students) LUNCH BOXES Sunday, May 4, 2003 Person(s) EUR 10.- p.p. Monday, May 5, 2003 Person(s) EUR 10.- p.p. Tuesday, May 6, 2003 Person(s) EUR 10.- p.p. Vegetarian box required METHODS OF PAYMENT Bank transfer free of charge for the beneficiary to the Congress Bank Account: "WMA-ESHG", Account No. 300031-08737, Bank/Routing code: 20111, SWIFT/BIC GIBAATWW at the Erste Bank, Alserstrasse 23, 1080 Vienna, Austria Cheque free of charge for the beneficiary, payable to the ESHG Congress Office c/o Vienna Med. Academy Credit card Visa Mastercard Diners Club Card number CVV2/CVC 2 Code* Expiry Date Name of Cardholder Signature *The CVV2/CVC2 is a 3-digit security code printed on the back side of your card. The number appears in reverse italic at the top right end of the signature panel behind the last 4 digits of your card number. This helps us to fight fraud in the card-not-present transactions. Thank you! Date Signature

European Society of Human Genetics EUROPEAN Human Genetics CONFERENCE 2003 International Convention Centre Birmingham, England Saturday, May 3 Tuesday, May 6, 2003 Call for Papers Scientific Programme Conference Information Registration CLOSING DATE FOR ABRACT SUBMISSION: JANUARY 13, 2003 Conference Website: www.eshg.org/eshg2003

THE BIRMINGHAM CONVENTION BUREAU IS THE OFFICIAL HOTEL BOOKING AGENT FOR: EUROPEAN SOCIETY OF HUMAN GENETICS 3 rd - 6 th MAY 2003 INTERNATIONAL CONVENTION CENTRE FREE HOTEL RESERVATION SERVICE Please return to: Birmingham Convention Bureau Millenium Point, Level L2, Curzon Street Birmingham B4 7XG Telephone: +44 121 202 5005 Fax: +44 121 202 5123 e-mail: piazza@marketingbirmingham.com Name of Applicant...Date... Address......Postcode... Telephone...Fax:... HOTEL SELECTED FROM OVERLEAF: 1st Choice 2nd Choice 3rd Choice OR HOTEL OF YOUR CHOICE: PRIVATE HOTELS & GUE HOUSES (Approx price per person) 15-25... 25-35... PRIVATE ACCOMMODATION... Limited good accommodation is also available in private homes in the area. Bed and English Breakfast approximately 15.00-18.00 per person. Accommodation required Please complete in block capitals inserting names of occupants and other details. Please photocopy if more space is needed. Arrive Depart Single Twin Double Bath/ Shower Please list room occupants names below Are you travelling by car?... PLEASE COMPLETE THIS SECTION TO GUARANTEE YOUR BOOKING. WITHOUT THIS GUARANTEE YOUR ROOM MAY BE RELEASED (BLOCK LETTERS PLEASE) Credit Card Details (VISA/MAERCARD/AMEX accepted) Name...Signature... Card No...Expiry Date... Address if different from above:...... These details will be passed to the hotel to guarantee your booking. Failure to notify the hotel of amendments or cancellations will result in charges being applied by the hotel. In the event of non-arrival or late cancellation the client may be liable to cancellation charges at the discretion of the hotel. Cancellation or amendments should be made in writing as early as possible to the Birmingham Convention Bureau. Birmingham Convention Bureau accepts no liability in connection with this booking and it is understood that you will accept responsibility for all legitimate charges made by the hotel. PLEASE NOTE RATES MAY BE SUBJECT TO ALTERATION 9 OFFICE USE ONLY Hotel Guest House Date Booked Ref. Allocation/Request Rooms Rate Inclusive CB/EB/VAT Computer Ref.

B4129 ROTTON DUDLEY A456 ROAD B4125 PORTLAND ROAD M5 Jct. 3 CITY ROAD PARK ROAD NORFOLK ROAD GILLOTT ROAD HEATH REET 1 19 Reservoir HARBORNE ABERDEEN HAGLEY Birmingham Marketing Partnership/Birmingham City Council, 1997 A B ROAD ICKNIELD PORT ROAD ROAD CHAD PLOUGH & HARROW RD MONUMENT ROAD WEBOURNE International Convention Centre National Indoor Arena SPRING ALON HILL LADYWOOD MIDDLEWAY ROAD B4532 ROAD HIGHFIELD RD B4284 HARBORNE ROAD 5 6 LEDSAM GREAT TINDAL REET A4540 LADYWOOD MIDDLEWAY CHURCH ROAD B4217 Five Ways. 2 RD B4217 CALTHORPE ICKNIELD MIDDLEWAY A457 SANDPITS KING VINCENT SHEEPCOTE Jewellery Quarter WARONE LANE A456 PARADE EDWARDS B i BRIDGE HOLLIDAY ISLINGTON ROW LEE BANK MIDDLEWAY MIDDLEWAY Brindley Place 6 17 BISHOPSGATE REET VYSE REET FREDERICK NEWHALL HILL Brunswick Sq. EDGBAON Campanille Birmingham City Inn BROAD BATH ROAD A HALL GRAHAM 15 WHEELEYS SUMMER LANE ROW GRANVILLE CAMBRIDGE REET ROW CONITUTION HILL NEWHALL REET 7 Paradise Circus 8 i Victoria Sq PINFOLD HOLLOWAY HEAD GREAT LIVERY REET HILL SUFFOLK Q WAY 9 NAVIGATION REET IRVING COLMORE SUMMER LA B4498 GT CHARLES QUEENSWAY Wharfside St HENRIETTA Church St COLMORE ROW NEW 14 BennetsHill St. Chad's Circus Holloway Circus TE M PLE A38 BRIOL REET SHADWELL N LOWER LOVEDAY CHADS Q WAY CHERRY SMALLBROOK Colmore Circus Snow Hill New St BULL ROW UNION i EELHOUSE LA HUR EDGBAON Q WAY HIGH CORPORATION GOOCH PERSHORE BROMSGROVE NEWTOWN ROW PRINCIP SHERLOCK REET BAGOT NEWTON CORP N A LBER T DALE END St. Martin s Circus Lancaster Circus JAMES WATT Q WAY MOOR Q WAY BULL RING PARK B A REET MOAT LA CORPORATION Masshouse Circus REA JENNENS RD DIGBETH RFORD MACDONALD AON A38 M6 Jct.6 AON ALBERT REET FAZELEY Moor St MERIDEN LE OPOLD S TRE ET RD NEW CANAL A4540 DARTMOUTH MIDDLEWAY LIER WOODCOCK HIGH BRADFORD CHEAPSIDE MOSELEY ALCEER REET GREAT LIER REET LAWLEY B4132 CURZON LIVERPOOL REET 18 5 Ashted Circus HEATH MILL LANE DERITEND REET CHEAPSIDE A47 NECHELL'S PARKWAY REET GT BARR HILL CAMP B4132 VAUXHALL ROAD A4540 WATERY LANE A45 Birmingham International Airport BORDESLEY 1 Apollo 7 Copthorne 13 Ibis Bordesley 19 Quality Hotel Birmingham 2 Birmingham Marriot 8 Crowne Plaza 14 Ibis Holloway Circus 3 Briar Rose 9 Days Inn 15 Jurys Inn Birmingham 4 The Burlington 10 Holiday Inn Birmingham City Centre 16 Malmaison 12 16 11 3 4 10 SANDY LANE 11 Hotel du Vin 17 Novotel Birmingham 12 Hyatt Regency Birmingham 18 Paragon 13 EUROPEAN SOCIETY OF HUMAN GENETICS 3 rd - 6 th MAY 2003 INTERNATIONAL CONVENTION CENTRE HOTEL Rating Rated by Rate for Rate per person Rate single room sharing twin/double includes per night room per night BIRMINGHAM CITY CENTRE Birmingham Marriott, Five Ways... ***** ETC/AA/RAC 99.00 69.00 EB/VAT #* Briar Rose, Bennetts Hill... 40.00 Sat/Sun 20.00 VAT... 45.00 Mon/Tues 22.50 VAT * Burlington, New Street... **** ETC/AA/RAC 50.00 35.00 EB/VAT # Campanile Birmingham, Chester Street... TA AA/RAC 46.50 23.25 VAT City Inn, Brindleyplace... 50.00 30.00 EB/VAT * Copthorne, Paradise Circus... **** ETC/AA/RAC 85.00 47.50 EB/VAT * Crowne Plaza Birmingham, Central Square... **** AA/RAC 85.00 42.50 EB/VAT Days Inn, Mailbox... 77.50 38.75 CB/VAT Holiday Inn Birmingham City Centre, Smallbrook Queensway. *** RAC 30.00 30.00 EB/VAT Hotel du Vin, Church Street... **** AA 120.00 Standard On request EB/VAT... 145.00 Deluxe On request EB/VAT * Hyatt Regency, Bridge Street... 90.00 50.50 EB/VAT... Regency Club... 115.00 63.00 CB/VAT... Breakfast to be taken in... the Regency Club Lounge Ibis Birmingham Bordesley, Bordesley Park Road... TA AA 56.95 28.48 VAT #* Ibis Birmingham Holloway Circus, Irving Street... 62.00 31.00 VAT Jurys Inn Birmingham Broad Street (formerly Chamberlain Tower)... *** AA 69.00 34.50 VAT Malmaison, Mailbox... 125.00 62.50 VAT Novotel Birmingham Centre, Broad Street... *** ETC/RAC 85.00 47.50 EB/VAT * Paragon, Alcester Street... ** ETC 30.00 20.00 EB/VAT EDGBAON * Apollo, Hagley Road... *** ETC 40.00 25.00 EB/VAT * Quality Hotel, Hagley Road... *** RAC 25.00 25.00 EB/VAT PLEASE CHECK CAR PARKING CHARGES AT THE HOTEL OF YOUR CHOICE ALL ROOMS ARE WITH BATH OR SHOWER * Rates at these hotels are specially discounted for your event. EB English Breakfast. CB Continental Breakfast. VAT Value Added Tax at 17.5%. # Subject to change. TA Travel Accommodation. PLEASE NOTE: The special rates featured above are applicable to the allocations of bedrooms being held for clients reserving their accommodation via BCB. All bedrooms allocated are held up to 28 days prior to the event. The prices shown cannot always be guaranteed if the allocation of bedrooms has been sold or released. INCLUSION ON THIS FORM DOES NOT NECESSARILY IMPLY RECOMMENDATION

Scientific Information ESHG 2003 Acceptance and Selection of Abstracts All submitted abstracts will be reviewed by the Scientific Programme Committee in early February 2003, and authors will be notified by email by the end of that month whether their abstract has been selected and, where relevant, whether it has been selected for spoken presentation. Results of Fellowship applications will be notified at the same time. Late breaking research Contributions for the final plenary session featuring important research completed after the abstract deadline of January 13, 2003 are welcome. The results should be expected to have a major impact on the development of the field in which they were obtained and should not be a simple late submission. More detailed information will be given on the website after the abstract submission deadline. A covering letter explaining the importance of the research should accompany the abstract. Both must be submitted before April 7, 2003. Workshops If you would like to contribute to one of the workshops mentioned below, please contact the organiser in advance (contact details can be found on the website www.eshg.org/eshg2003. Please note that abstracts presented in these workshops will not be published in the European Journal of Human Genetics, unless they are submitted AND presented as a poster within the European conference. Please see the website www.eshg.org/eshg2003 for contact details of the workshop organisers. Young Scientist Award The ESHG awards prizes of EUR 300.- for outstanding research by young scientists presented as a spoken contribution at the conference. All young scientists submitting spoken presentations are encouraged to apply. The Scientific Programme Committee will select the finalists. They will be notified and their names published in the abstract book. The Scientific Programme Committee will judge the presentations during the conference. Winners will be announced and awards given in the closing session on Tuesday, May 6, 2003. The nominee must be first author (i.e. presenting author) on an abstract submitted for spoken presentation and should not be more than six years post-doctoral. Authors wishing to be considered for this award should complete the appropriate box during abstract submission. Closing date: January 13, 2003 Conference Fellowships A number of fellowships will be awarded by the Scientific Programme Committee for applicants from Central and Eastern Europe. Authors wishing to be considered for a fellowship should complete the appropriate box during abstract submission. The nominee must be first author (i.e. presenting author) of an abstract submitted for either oral or poster presentation, and should not be more than six years postdoctoral. Closing date: January 13, 2003 ESHG Award The ESHG Award, is presented by the European Society of Human Genetics during its annual European Human Genetics Conference in recognition of individual achievement in human genetics. Nominations are requested now for the 2004 award. Candidates working in Europe may be nominated from any of the disciplines. Nomination letters describing the scientific accomplishments of the candidate should reach the chairman of the Scientific Programme Committee before May 23, 2003. Professor Andrew Read, Department of Medical Genetics, St.Mary s Hospital, Hathersage Road, Manchester M13 0JH, United Kingdom. Tel: +44 161 276 6276, Fax: +44 161 276 6606, Email: andrew.read@man.ac.uk European Alliance of Genetic Support Groups The EAGS, an umbrella organisation of national and supra-national patient support groups in Europe, working for the benefit of individuals and families with genetic disorders, is holding its annual conference in parallel with the ESHG annual meeting this year. Representatives of the European umbrella groups for the support of those affected by genetic disorders will be gathering to discuss general and specific issues of common concern such as orphan medicinal products and rare diseases, public awareness, education, scientific research, patents, ethics, reproductive choice and screening, insurance, quality of life and regulation. Delegates of ESHG 2003 will be very welcome at any of these open sessions of the EAGS meeting. For more information please contact: Mr Alastair Kent, Secretary-general of EAGS, Tel: +44 207 704 3141, Fax +44 207 359 1447, E-mail: alastair@gig.org.uk Satellite Meeting The Clinical Molecular Genetics Society will hold their annual meeting as a satellite to this years ESHG meeting on May 7th. Registration and programme will be administered separately but if you are interested in attending please contact either Fiona Macdonald, secretary of the CMGS at fiona.macdonald@bham-womens.thenhs.com or Ruth Cole at cmgs2002@bshg.org.uk. Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

Social Programme - Exhibition - Hotel Acommodation ESHG 2003 Welcome Reception - Saturday 3rd May 2003: 19.00-20.30, International Convention Centre, Birmingham Meet your colleagues at the Welcome Reception at the invitation of the British Society for Human Genetics. Drinks and nibbles will be served in the International Convention Centre. Although the attendance at the Welcome Reception is free of charge, we kindly ask you to register for this event. Conference Party - Sunday 4th May 2003: 20.00, International Convention Centre, Birmingham Come and enjoy the hospitality of Birmingham, celebrate its ethnic diversity and share the buzz of the conference party. After a welcoming drink, enjoy the British, Caribbean, Chinese and Indian hot buffets, served with tossed salad and assorted breads. Desserts will follow! As we are planning for healthy appetites, we have set the contribution you are paying for the party to help provide the food. Therefore, after the welcoming drink, we are asking you to purchase further drinks from the bar. For the energetic amongst you, the evening will continue with a disco and dancing. For those not so energetic, relax in one of the quieter areas with friends and colleagues. Places are limited so please book early to avoid disappointment. Contribution towards expenses: Members, Non-members or Acc. Persons: EUR 47.- Students: EUR 29.- Accompanying Persons Programme Planned Tours Sunday, May 5, 2003, 10.00 hrs Full Day Tour Wonderful Warwick and The Stratford Experience Monday, May 6, 2003, 9.00 hrs Half Day Birmingham Walking Tour Please note that tours depend on a minimum number of participants. For more details please see: www.eshg.org/eshg2003 Exhibition, Sponsoring and Commercial Satellites An excellent commercial exhibition is being planned in an area which will be the social heart of the Conference, fully integrated with scientific posters and the Internet Café. Companies which are interested in sponsoring the Conference or organising a commercial satellite, please contact Ms Jana Petrova at Rose International: jpetrova@rose-international.com Hotel Reservation Office For room reservation, please contact: Birmingham Convention Bureau Millenium Point, Level L2, Curzon Street Birmingham B4 7XG, England Telephone: +44 121 202 5005 Fax: +44 121 202 5123 e-mail: piazza@marketingbirmingham.com Online booking and download of the hotel booking form at www.eshg.org/eshg2003 Please see the hotel booking form or the website www.eshg.org/eshg2003 for more details on hotels, room rates, booking and locations. Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

General Information ESHG 2003 Venue The International Convention Centre (ICC), Broad Street, Birmingham B1 2EA, United Kingdom, Tel: +44 121 200 2000 Coffee Breaks and Lunch During the session breaks refreshments (coffee, tea, and water) will be served free of charge to participants wearing name badges. Lunch tickets for lunch boxes (containing a filled baguette, fresh fruit, crisps and fruit juice) for Sunday, Monday and Tuesday, May 4/5/6 may be pre-ordered on the registration form - they cannot be purchased on site. Price per day: EUR 10.- Insurance In registering for the ESHG 2003 participants agree that neither the organising committee nor the congress office assume any liability whatsoever. Participants are requested to make their own arrangements for health and travel insurance. Passports and Visas Holders of passports from Western Europe, North America and Australia will not need a visa to enter the United Kingdom. For some nationalities a visa is required: please consult www.ukvisas.gov.uk or enquire at your local UK embassy or your travel agent. If required, an official invitation letter can be requested from the conference scientific secretariat for visa purposes. As visa applications can take up to three months, early application is recommended. Travel information By air: More than 25 scheduled airlines operate direct flights to Birmingham International Airport (www.bhx.co.uk) from over 58 destinations in Europe, Scandinavia, North America and Asia, including New York, Chicago and thirteen capital cities. Frequent flights to the main European Hub airports provide convenient connections to destinations worldwide. The airport is situated 8 miles south east of Birmingham and has its own mainline station (Birmingham International Station) linked by a free monorail connection between the main airport terminal and the railway concourse. A taxi from the airport to the city centre costs approximately 16. By rail: Birmingham City Centre has two mainline stations - Birmingham New Street and Birmingham Snow Hill (Birmingham International station serves the airport). Details of intercity trains may be found on www.thetrainline.com. Virgin trains run a service every half hour from London Euston Station to Birmingham New Street Station (journey time about 90 minutes). Slower and cheaper trains run from London Euston to Birmingham New Street (Silverlink County) and from London Marylebone Station to Birmingham Snow Hill Station (Chiltern Railways). Trains from Birmingham International Station (at the airport) go to Birmingham New Street in the city centre. By road: Birmingham lies at the crossroads of the UK s motorway system with direct links to the M6, M5, M1, M42 and M40. It is also at the centre of Britain s national coach network, connecting directly with 500 destinations. Car parking will be possible in public parking lots. However, we recommend using public transportation to reach the ICC. Public transportation: The International Convention Centre is situated in the heart of Birmingham city centre and is easily accessible by foot as are other city centre amenities. The majority of hotels listed are within easy walking distance. For those where walking would take a little longer (Nos. 1, 5, 13, 18 and 19 on the hotel map) there are frequent buses to the city centre. For information about buses in Birmingham and the West Midlands Region please see www.travelwm.co.uk Information about trains, buses and coaches in the West Midlands region can be found on www.centro.org.uk Please visit the regularly updated website for abstract submission, registration and further information: www.eshg.org/eshg2003

Registration ESHG 2003 Registration Fees PAYMENT RECEIVED: before February 28, 2003 after February 28, 2003 ESHG Members* EUR 250.- EUR 350.- Non-Members EUR 360.- EUR 460.- Students** EUR 130.- EUR 160.- Accompanying Persons EUR 80.- EUR 80.- Conference Party (Members, Non-members or Acc. Persons) EUR 47.- EUR 47.- Conference Party (Students) EUR 29.- EUR 29.- * Participants having applied for ESHG membership and paid their contribution may pay the Member s fee. Membership information is available at www.eshg.org. ** Please provide a copy of a Student s ID or a confirmation signed by the head of department by fax to +43 1 407 82 74 or together with the hardcopy of the registration form. Online registration is possible at www.eshg.org/eshg2003 What is covered by the registration fee? Participants: Admission to all scientific sessions, exhibition and welcome reception Abstract book and Programme Coffee/Tea during breaks from Saturday, May 3 to Tuesday, May 6 Accompanying Persons: Admission to the Opening Ceremony Admission to the Welcome Reception Admission to the Exhibition Area Birmingham City Tour on May 5, 2003 Payment Registration fees, in EUR may be paid by: - Bank transfer to bank account WMA-ESHG No. 300031-08737, Bank/Routing code 20111, SWIFT/BIC: GIBAATWW, at the Erste Bank, Alser Strasse 23, 1080 Vienna, Austria. - Payments should be made without charges to the beneficiary. Any bank charges will be collected on site. Clearly state the participant s name(s), matching with the name(s) on the registration form. Cheque. Bank cheques without charge to the beneficiary, should be payable to ESHG 2003 c/o Vienna Medical Academy. - Credit Cards: Diners Club, Mastercard and Visa (Amex cards cannot be accepted). Please note The reduced registration fee is only applicable, if it has been credited to the congress account before the deadline. Registering before February 28, 2003 without performing an actual payment is not sufficient to benefit from the reduction. Confirmation of Registration You will receive written confirmation of registration by mail when the registration form has been received and the payment has been credited to the congress account. If your registration form is received between April 7 and April 18, 2003, you will be pre-registered for the conference, but no confirmation of payment will be sent. If you made a bank transfer, please bring proof of payment of your registration fee, when collecting the registration material. After April 18, 2003, pre-registration will be closed, but you may register at the On-site registration Desk in the ICC Birmingham that will open on Saturday May 3, at 10.00. Cancellations and Refunds Notice of cancellation must be made in writing by registered letter or fax to the Congress Office. Registration fees may be refunded as follows: Written cancellation received: - before April 7, 2003: 75% refund - after April 7, 2003: no refund The date of the postmark or fax ID will be the basis for considering refunds. Please indicate the preferred method of reimbursement (cheque or bank transfer, incl. account number) on your written cancellation. Refunds will be made after the congress. Registration Schedule December 2002 - February 28, 2003: Pre-Registration & payment at the reduced rate. At the venue, please register at the Pre-registration desk March 1 - April 18, 2003: Pre-Registration & payment at normal rate. At the venue, please register at the Preregistration desk April 18 - May 6, 2003: On site registration & payment at normal rate. Please do not send in registration forms or perform bank transfers within this period. Please register at the On siteregistration desk at the venue. Please note: Pre-registration without payment of the registration fee is possible. The (non-reduced) fee will then have to be paid at the registration desk (Credit card or cash in EUR or GBP).

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European Society of Human Genetics EUROPEAN Human Genetics CONFERENCE 2003 International Convention Centre Birmingham, England Saturday, May 3 Tuesday May 6, 2003 The Provisional Programme Includes Plenary Sessions Highlights of 2002 Public Issues: Population DNA Banks Recent Developments in Neurogenetics Limb development Workshops on Syndrome identification Issues in counselling Cytogenetics Genotyping and mutation detection arrays Prenatal cytogenetics Quality control Closing date for abstract submission: January 13, 2003 Symposia on Bioinformatics Stem Cells Sensory Genetics SNPs and haplotypes Chromosomes in genetic disease Genetics and endocrine problems Alternative splicing Cancer Genetics Alzheimer disease Talks from Submitted Abstracts Poster Presentations Young Scientist Awards Conference Fellowships Conference Website: www.eshg.org/eshg2003