26 apr 20081 lmbbs congress april 2008 northampton uk, 26 apr 2008 lmbbs in non-english speaking...
TRANSCRIPT
26 APR 2008 1
LMBBS congress April 2008 Northampton UK, 26 APR 2008
LMBBS in non-English speaking countries.
Presentation by Francis Lestel, vice-president of French BBS Association
26 APR 2008 2
France
Personal historyMy daughter, just turned 15, diagnosed at the age of 12 by tips of ‘external’ nephrologistsand ophthalmologists, completed by internet research. Diagnosis finally confirmed by Hélène Dollfus as BBS10.
Association and statisticsFrench BBS Association created end of 2003. In 2007, 30 families were members.Yearly meetings are organized : * last one near Cannes in September 2007,
* next one in Strasbourg in Oct/Nov 2008.
ContactsMain specialists in France conducting BBS studies :- Professor Hélène Dollfus of Strasbourg - Professor Alain Verloes of Paris.
- French BBS Association : President = Bertrand Lasbleis <[email protected]>, Vice-president = Francis Lestel <[email protected]>.Website with partial English translation : www.bardet-biedl.com
BBS in non-English speaking countries
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BBS in non-English speaking countries
France (Cont’d)
PortanumThis is a charity project co-developed by THALES for the software and IBM-France for the hardware.It allows filming the classroom blackboard with a camera, and displaying the result on a PC screen, with features such as zooming, enhancement of contrasts and changing colours.Information and free downloading on www.portanum.com (French/English versions).
Top-BrailleThis is a device developed by a company in Nice, France. It allows quasi real-time reading of ordinary characters (newspapers, stickers,…) and translation into Braille and synthesized voice.Information and sales conditions on www.top-braille.com (French text/English video).
Rare diseases forum:The first “rare diseases” forum was held in Nice on 8 November 2007.In France, 6000 to 7000 rare diseases affect in total 3 million people. The “rare diseases alliance” references 174 associations, amongst which BBS.
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BBS in non-English speaking countries
Germany
Association and statisticsThe German BBS Association is a subgroup within the “Pro Retina Deutschland” association. In 2007, 70 BBS-families were registered, not all being members of Pro Retina Deutschland .Regular meetings are organized. ContactsBBS-Germany Association’s President : Franziska Kellermann <[email protected]> Doctor conducting study : Hr. Metin Cetiner
Studienkoordination Bardet-Biedl-SyndromKlinik für Pädiatrische NephrologieUniversitätsklinikum EssenHufelandstr. 5545122 EssenTelefon +49 (02 01) 7 23 33 50Telefax +49 (02 01) 7 23 37 85E-Mail [email protected]
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BBS in non-English speaking countries
Belgium
PARENT CONTACT GROUP :Marc & Chris Van Liefferinge-PerdieusKruisstraat 763120 Tremelo (Belgium)+32(016)[email protected]
Other countries We have contacts in Quebec, Italy, Finland, Spain. There are no BBS associations known there.
Multinational discussion group [email protected] group in English language. Worldwide, but 2/3 USA.Interchange of tips : medical, behavioural, etc…
Internet databases www.orpha.net : 6 languages available www.genetests.com : in English.