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BARDET-BIEDL Syndrome International Connecting people affected by the syndrome of Bardet-Biedl worldwide About BBS FOUNDATION BBS International is a federation that will enable us to collaborate together on a global scale, to unite efforts, to collect and publish information on the disease, to increase network cooperation, to improve research by avoiding unnecessary duplication. ​ Created on 03 October 2020 by 5 countries (France, USA, UK, Italy, Netherlands). Members are active national patient organisations representing patients and their families affected by BBS. Together, they are the voice of approximately 40,000 patients worldwide. « Bardet-Biedl syndrome is a rare disease, but many of you around the world are affected by it or one or more of your children. The announcement of such a diagnosis is hard and one can feel quite alone. Many countries in the world do not have a national association or the information to better understand the disease. This is also why the Federation was created, to break the isolation and answer your questions. You are not alone ! » ​ Join the community and get to know each other ! JOIN Our TEAM Véronique HELOIR Presidente Francis LESTEL Vice-President Patricia Dawn HATCHER Secretary Grégory BOUETEL Treasurer Contact US Send Thank you for your sending ! Bardet-Biedl Syndrome International 3 route des Essarts 26240 SAINT-UZE FRANCE

Become a MEMBER The Federation accepts new members from BBS or similar associations in Europe and around the world. The applicant organisation can pay by bank transfer or credit card by following the links below. Becoming a member will make the Federation stronger and you will be involved in all the initiatives of the Federation. How to become A MEMBER : The fee of 100 € gives you the status of a full member and the right to vote at general meetings . It will contribute to all the operating costs of BBSI. It is an annual membership fee which can be paid by bank transfer or credit card. To become a full member, your organisation must be a properly constituted non-profit organisation in your home country. BY TRANSFER BY CREDIT CARD There is no association in your country ? ​ Register for free with our community and tell us your story. You will be able to send us a message and ask your questions and also attend our meetings. ​ Join us

Work IN PROGRESS IN FRANCE Visit IN GERMANY Visit IN USA Visit IN UK Visit IN ITALY Visit

About RESEARCH 3 MAJOR CATEGORIES OF RESEARCH FUNDAMENTAL RESEARCH Which has as its main objective the understanding of natural phenomena, the establishment of theories or explanatory models. It is essential to the process of creating new therapies. It can use animal models "in vivo", or be conducted "in vitro" using stem cells. CLINICAL RESEARCH Is based on the results of basic research but is conducted to observe the effect of certain potentially therapeutic molecules on people with BBS. Its aim is to verify the researchers' hypotheses and to show the possible effectiveness of certain treatments, while ensuring the absence of toxicity and serious side effects. The clinical trials, organised in three phases (I, II and III), can lead to the marketing of treatments that improve people's lives. HUMAN AND SOCIAL SCIENCE RESEARCH Which allows a better understanding of the individual, family and social consequences specifically linked to the rarity of the disease and to increase knowledge on the specific impact of BBS in terms of disability and quality of life.

Contacto A síndrome de Bardet- Biedl, caracteriza-se pela associação de défice visual progressivo, obesidade, polidactilia, problemas renais, hipogenitalismo nos homens e anomalias genito-urinárias na mulher e dificuldades de aprendizagem. Transmite-se de forma autossómica recessiva e foram identificados 24 genes associados a BBS, mas em cerca de 20% a causa ainda é desconhecida. Estima-se uma prevalência de 1/150.000. As manifestações mais frequentes são: Retinite pigmentar de tipo cone e bastonete (>90%). Esta alteração pode não ser identificável até por volta dos 8 anos, quando se inicia diminuição da visão nocturna; aos 20 anos 75% dos doentes perderam completamente a visão. Polidactilia postaxial (dedo supranumerário na metade externa das mãos e /ou pés) ocorre em cerca de 80%. Obesidade (90%) inicia-se na infância e é essencialmente do tronco. Ao nascer o peso é habitualmente normal. Não controlada, podem surgir outros problemas associados: diabetes, hipertensão, hiperlipidemia. Dificuldades de aprendizagem são frequentes (60%), embora na maioria não exista um défice cognitivo significativo. Défice de atenção, processamento lento e traços obsessivos, compulsivos são comuns. Anomalias genitais (60-90%). No sexo masculino manifesta-se por hipogonadismo com pénis e testículos pequenos, criptorquidia, ausência de caracteres sexuais secundários, atraso pubertário, infertilidade. No sexo feminino podem existir malformações genito-urinárias como ausência ou hipoplasia da vagina, útero, trompas, ovários, imperfuração vaginal, fistulas….e também atraso pubertário, amenorreia, diminuição da fertilidade, mas há casos de gravidez Alterações renais (displasia, doença quística…) ocorrem em 50 a 70% dos casos e podem conduzir a falência renal. Foi sugerido como critério de diagnóstico clínico de BBS a presença de 4 das manifestações acima referidas ou 3 delas e mais duas das seguintes: cardiopatia, diabetes, alterações dentárias, hepáticas, intestinais (hirshprung), anosmia (ausência de cheiro),braquidactilia/sindactilia (dedos curtos/unidos), descoordenação motora/ ataxia, atraso global de desenvolvimento, atraso da linguagem

​ Das Bardet-Biedl-Syndrom (BBS) ist eine seltene genetisch bedingte Erkrankung, bei der verschiedene Symptome in unterschiedlicher Ausprägung auftreten können. Zu den Hauptsymptomen zählen: Netzhautdystrophien Übergewicht Überzählige Finger und / oder Zehen Nierenerkrankungen Entwicklungsverzögerung Unterentwicklung der Geschlechtsorgane Das Bardet-Biedl-Syndrom wird autosomal rezessiv vererbt. Nähere Informationen zum Bardet-Biedl-Syndrom sowie zu den Aktivitäten der BBS-Gruppe finden Sie hier ​ Uns kontaktieren

Who WE ARE With an increasing number of people and groups sharing common goals and working on common activities, it became clear that more could be achieved by working together than each group working alone. ​ The Bardet-Biedl Syndrome International Federation was created to serve as the central body for a network of national associations and other BBS patient support groups. Our OBJECTIVES The main objective of Bardet-Biedl Syndrome International is to create a platform for collaboration between national associations, support groups and networks, people with BBS and their families, and researchers and professionals working on Bardet-Biedl Syndrome. In more detail, the objectives of Bardet-Biedl Syndrome International are as follows : To find and build a network of all associations and families of people with BBS so that they perceive the federation as a reference point for creating a strong and united Bardet-Biedl community Promote, support and stimulate the exchange of knowledge and understanding of BBS at the international level between national associations to avoid unnecessary duplication of resources Coordinate international research efforts by bringing together research institutes and relevant professionals, To facilitate and promote communication between patients, health professionals, researchers and other organisations that support people with BBS.

Founding MEMBERS When a rare disease invades your life, whether you yourself have the syndrome or are the parent of a child suffering from it, the world falls apart under your feet. You have to relearn everything, adapt everything, make it work.... Living with a rare disease like Bardet-Biedl Syndrome can sometimes be incredibly overwhelming and isolating, but it is important to remember that whether you are living with the syndrome yourself or caring for someone with it, you are not alone. ​ On this page you can find a list of all the countries where there is a Bardet-Biedl group, or other Bardet-Biedl patient support group. Discover the website, social media page or e-mail address of your national Bardet-Biedl patient support group. FRANCE GO UNITED STATES GO UNITED KINGDOM GO netherland GO italy GO GERMANY GO

Zespół Bardeta-Biedla (BBS) charakteryzuje się połączeniem wady wzroku, otyłości, dodatkowych palców u rąk i/lub nóg, małych narządów płciowych, upośledzonej funkcji nerek i trudności w nauce. Występują również inne objawy. ​ Zespół Bardeta-Biedla należy do grupy zaburzeń zwanych ciliopatiami i jest spowodowany uszkodzeniem rzęsek pierwotnych. Rzęski pierwotne to nieruchome wypustki, rodzaj anteny na powierzchni komórki, która koordynuje wiele funkcji ważnych dla funkcjonowania komórek, takich jak ruch, widzenie, odczuwanie i sygnalizacja komórkowa. Zaburzenia funkcji rzęsek mogą prowadzić do nieprawidłowości w rozwoju płodu i powodować wady rozwojowe wielu różnych narządów. ​ U około 80% osób z zespołem Bardeta-Biedla wykryto mutację powodującą chorobę. Najczęstsze mutacje występują w BBS1 (23%), BBS2 (8%) i BBS10 (20%). ​ Do chwili obecnej (2022 r.) odnotowano mutacje w 24 różnych genach, z których wszystkie są zaangażowane w produkcję lub regulację białek ważnych dla prawidłowego tworzenia i funkcjonowania komórek. Lekarzem referencyjnym w Polsce jest dr Marta Koltlarek. Kontakt

Our TEAM Administrative OFFICE Véronique HELOIR Presidente ​ Véronique is the mother of a little boy of almost 12 years old who has BBS6 and lives in France in the Drôme Provençale. After a career in the press and then in Real Estate, Véronique had to give up her professional activity to stay close to her son with special needs. Appointed President of the Bardet Biedl France Association in 2018, she and her team are working to increase awareness of the syndrome and to raise funds and interact with the various French doctors in charge of research for BBS. Francis LESTEL Vice-President ​ Francis leaves in France, he is an engineer and has participated in several international medical congresses, preparing abstracts for those who were unable to attend. He understands 11 languages and is the father of a 30 years old girl with BBS10. Dawn HATCHER Secretary ​ Vice-president of BBS Italy. Association created in 2009 with 30 registered families.Patricia is a teacher, she is bilingual English/Italian and mother of Christopher, 31 years old, diagnosed with BBS 25 years ago by Phil Beales. Grégory BOUETEL Treasurer ​ Grégory is Treasurer of the association Bardet-Biedl France. He also suffers from the syndrome. ​ Grégory lives in France and has his own company specialising in the field of event organisation (weddings, birthdays, lighting, etc.). The Board OF DIRECTORS Tim OGDEN USA ​ Tim is Managing Director of the Financial Access Initiative. He is also Managing Director of the US Financial Diaries project. Tim is the President of the Bardet Biedl Association USA. He is the father of Nathanael, a 14-year-old carrier of the syndrome. Bendert DE GRAAF NETHERLAND ​ Operations Manager at CCIC EUROPE Food Test BV Kampen (Overijssel), Province of Flevoland, The Netherlands. Bendert is the president of the Bardet-Biedl Stichting Association and father of a little boy with the syndrome. Tonia HYMERS UK ​ Tonia is the Service Manager for BBS UK Clinics Ltd. Tonia has two grown-up children, Daniel and Connor and lives in Harwich in Essex. The family attended their first conference in 1998 following the diagnosis of their son, Daniel, and were so grateful to the young people and adults with the syndrome for enabling them to picture a positive future. Tonia was happily coerced onto the Committee, where she stayed for the next 15 years, taking on the role of Fundraising Co-ordinator and then Newsletter Editor. Tonia assisted with the inception and development of the specialised BBS Clinics and was Children’s Service Manager from 2010 to 2017, when she took on the role of Service Manager. Matthias KIMM GERMANY ​ ​ Kjell ARNE NORWAY ​ ​ The SCIENTIFIC ADVISORS Phil BEALES UK ​ Phil Beales is head of Genetics and Genomic Medicine at ICH, Director of the Centre for Translational Genomics (GOSGENE) and head of the Cilia Disorders Laboratory (CDL). His research interests centre on rare diseases, especially the ciliopathies, a class of disorders caused by defects in the formation or function of the cilium. Hélène DOLLFUS FRANCE ​ Hélèn e Dollfus is University Professor and Hospital Practitioner (PU-PH) in medical genetics and ophthalmology. Head of the Medical Genetics Department at the University Hospitals of Strasbourg (HUS), she coordinates the CARGO (Affections rares en génétique ophtalmologique) reference center, as well as the SENSGENE national rare disease network. Director of the Medical Genetics Laboratory (Inserm/Unistra), she is also the driving force behind the Institut de Génétique Médicale d'Alsace (IGMA). Chairwoman of the Scientific Advisory Board of the Retina France patients' association. Hélène Dollfus is also coordinator of ERN-EYE, the European reference network for rare eye diseases. ​