LMBBS congress April 2008
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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. BBS in non-English speaking countries. France Personal history

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LMBBS congress April 2008 Northampton UK, 26 APR 2008

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Lmbbs congress april 2008 northampton uk 26 apr 2008

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


Lmbbs congress april 2008 northampton uk 26 apr 2008

BBS in non-English speaking countries

France

Personal history

My daughter, just turned 15, diagnosed at the age of 12 by tips of ‘external’ nephrologists

and ophthalmologists, completed by internet research.

Diagnosis finally confirmed by Hélène Dollfus as BBS10.

Association and statistics

French 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.

Contacts

Main 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


Lmbbs congress april 2008 northampton uk 26 apr 2008

BBS in non-English speaking countries

France (Cont’d)

Portanum

This 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-Braille

This 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.


Lmbbs congress april 2008 northampton uk 26 apr 2008

BBS in non-English speaking countries

Germany

Association and statistics

The 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.

Contacts

BBS-Germany Association’s President : Franziska Kellermann <[email protected]>

Doctor conducting study : Hr. Metin CetinerStudienkoordination 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]


Lmbbs congress april 2008 northampton uk 26 apr 2008

BBS in non-English speaking countries

Belgium

PARENT CONTACT GROUP:

Marc & Chris Van Liefferinge-Perdieus

Kruisstraat 76

3120 Tremelo (Belgium)

+32(016)-537120

[email protected]

Other countries

We have contacts in Quebec, Italy, Finland, Spain. There are no BBS associations known there.

Multinational discussion group

[email protected]

Parents 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.


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