Résultats de recherche
20 elementi trovati per ""
- Contact Us | om.be
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.
- Our team | BBS-Foundation : BARDET-BIEDL Syndrome International
Our TEAM Administrative OFFICE Véronique HELOIR Presidente Véronique is the mother of a little boy of almost 11 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 27-year-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. 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. Robert HAWS USA Pediatrics-Nephrology Physician / Director of Clinical Research. Peds-Nephrology Medical Director of the Center of Excellence for the Treatment of Bardet-Biedl Syndrome of Marshfield Clinic, Wisconsin
- Work in progress | BBS Fédération
Work IN PROGRESS IN FRANCE Visit IN GERMANY Visit IN USA Visit IN UK Visit
- Bardet-Biedl Syndrome - INTERNATIONAL (BBS Foundation)
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
- Documentation | BBS Fédération
Bardet-Biedl RESOURCES Out of gallery
- Who we are | BBS Fédération
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.
- Our members | BBS-Foundation : BARDET-BIEDL Syndrome International
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
- Become a member | BBS-Foundation
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
- The disease / BBS-Foundation : BARDET-BIEDL Syndrome International
The DISEASE SWEDISH POLISH PORTUGUESE SPANISH RUSSIAN GERMANY Bardet-Biedl Syndrome is a genetic disease caused by a change (mutation) in a gene. To date, there are at least twenty-four different genes that may be responsible for this disease. These are genes BBS1 to BBS24. Bardet-Biedl most often combines obesity, vision problems, finger abnormalities, and in some cases kidney and genital abnormalities. Learning difficulties are often present. Other malformations (of the heart, for example) may be associated, but more rarely. Bardet-Biedl Syndrome affects both boys and girls and usually begins at birth and is not contagious. The manifestations and severity of the syndrome vary considerably from person to person. Bardet-Biedl syndrome is a rare disease whose prevalence (number of people affected in a population at a given time) is between 1 in 100,000 and 1 in 160,000 for the populations of Europe and North America. This syndrome is much more common in certain isolated populations such as the Bedouin populations of Kuwait where the prevalence is estimated at 1 in 13,500. TRANSMISSION In most cases of BBS, both parents carry a normal gene and a defective recessive gene. Although the parents have a copy of the defective gene and are called carriers of the disease, they are not affected by the presence of the defective gene. For a recessive disease to occur, the child must inherit two defective copies of the gene, one from each parent. The child from each pregnancy has a one in four chance of being affected. If a newborn child is not affected, there is a 2 in 3 chance that it will carry the defective BBS gene. Because the syndrome is rare, it is unlikely that a carrier will have affected children unless their partner is also a carrier. GENETIC To date (2022), mutations in 24 BBS genes have been identified in 85% of BBS patients. There are still more genes to be found, as 15% of patients do not have a mutation in one of the identified BBS genes. Some genes are more common than others: 38% of patients have mutations in the BBS1 gene and in the BBS10 gene. However, patients with mutations in the same BBS gene can have very different symptoms of the syndrome: one person may be born with extra fingers, while another person with the same mutation may not have extra fingers at all. The genes involved in this syndrome 'control' the production of proteins that play a role in the cilia of cells. Cells have cilia that function like antennae, capturing and transmitting information about the state of their environment. When these cilia are defective (which is the case when genes are mutated), certain functions are also altered. In particular, cilia play an important role in vision and kidney function, which explains the visual deficit and possible kidney abnormalities in Bardet-Biedl syndrome. Much research is underway to understand the role of the cilia in all manifestations of the disease. CLINICAL MANIFESTATIONS The clinical manifestations of Bardet-Biedl syndrome are multiple and vary considerably from person to person. Therefore, not all patients have all of the symptoms described below. Visual disturbance Learn more Overweight Learn more Abnormalities of toes and fingers Learn more Abnormalities of the genital organs Learn more Kidney and urinary tract deformities Learn more Intellectual deficiency and psychological disorders Learn more Other manifestations Learn more HOW CAN THE SYMPTOMS BE EXPLAINED The genes involved in this syndrome "control" the production of proteins that play a role in the cells' eyelashes. The cells have lashes that function like antennae, capturing and transmitting information about the state of their environment. When these cilia are defective (which is the case when genes are mutated), certain functions are also altered. In particular, cilia play an important role in vision and kidney function, which explains the visual deficit and possible kidney abnormalities in Bardet-Biedl syndrome. A great deal of research is underway to understand the role of the cilia in all manifestations of the disease. If left untreated, the various manifestations can worsen, in particular kidney damage and obesity. Obesity, which is resistant to the usual diet and measures, can be complicated by diabetes and excess lipids in the blood (hyperlipidemia), heart and joint problems. In addition, retinal abnormality leads to a severe reduction in vision, and even blindness between the ages of 15 and 30. Indeed, the field of vision gradually reduces and central vision can sometimes end up being reduced. Early treatment can limit the worsening of symptoms. WHAT IS ITS EVOLUTION ?
- Support us | BBS Fédération
Support US Make a DONATION By making a donation, you will give us the means to advocate for Bardet-Biedl syndrome patients and promote research. Please note that in many European countries, donations are tax deductible for individuals and private companies. Your generosity will allow us to continue our vital work in making a difference in the lives of people living with Bardet-Biedl Syndrome across the globe. Make a donation, sporadically or periodically, in the amount of your choice : Click here Become A VOLUNTEER You can become a volunteer and/or representative of families in your country. It is also possible to help us with specific tasks, such as translating the website into your native language. Click here Be INVOLVED : You can collaborate with us as a volunteer, supporting us in spreading our message, carrying out our activities or launching a fundraising initiative in your personal networks. Please contact us for ideas and suggestions. Click here
- Medical centres | Bbs-foundation
Medical CENTRES GERMANY Click to learn more FRANCE Click to learn more USA Click to learn more UK Click to learn more ITALY Click to learn more NETHERLANDS Click to learn more Click on the Flag OF YOUR CHOICE
- BBS clinical registry | BBS Fédération
Bardet-Biedl CLINICAL REGISTRY Clinical REGISTRY INVESTIGATING CRIBBS (For english speakers) Because BBS is relatively rare and individuals with the disease are spread out across the world, no single medical center has the expertise to fully address the needs of individuals with BBS or to develop much needed new treatments. CRIBBS serves as a valuable tool to learn more about BBS and its impact on the health of a person. Information gathered in CRIBBS will be used to help families better understand the condition, to help healthcare providers provide timely preventative and comprehensive care, and to foster scientific efforts in understanding this complex disorder. Frequently Asked Questions : Why is a BBS registry important ? Bardet-Biedl Syndrome (BBS) is thought to affect approximately 2,500 people in the United States. Because BBS is relatively rare and individuals with the disease are spread out across the world, no single medical center has the expertise to fully address the needs of individuals with BBS or to develop much needed new treatments. CRIBBS serves as a valuable tool to learn more about BBS and its impact on the health of a person. Information gathered in CRIBBS will be used to help families better understand the condition, to help healthcare providers provide timely preventative and comprehensive care, and to foster scientific efforts in understanding this complex disorder. How do I register for CRIBBS ? Clicking on this registration link will bring you to the registration page. You will be asked several simple questions so that we can contact you. We will not request confidential information such as social security numbers or driver’s license numbers. What information will I have to provide to participate in CRIBBS ? Bardet-Biedl Syndrome (BBS) affects each person differently. To better understand how BBS affects you specifically, a member of our team will conduct a telephone interview that takes 90 to 120 minutes. In addition, we will ask you to complete two written assessment forms at your leisure. We will also ask you to sign medical release forms that allow us to obtain medical records from your healthcare providers. We will not ask for confidential information such as social security numbers or driver’s license numbers. Who can see my information ? Your privacy is important to us. Your health information will be assigned a study number that will replace any information that may identify you. Medical records will be stored in a secured location and only individuals directly involved in CRIBBS will have access your information. Your information will not be shared with private organizations, such as insurance companies. Information will be compiled using the study identification numbers and shared with researchers and scientists trying to better understand BBS. How often will the CRIBBS research staff contact me ? One important purpose of the registry is to monitor the ongoing health of individuals with BBS over time. As such, we will contact you annually to get an update on your health. In addition, you will be asked to repeat the two written assessments completed upon CRIBBS enrollment and we will contact your healthcare providers to obtain updated health records. If at any time, you wish to withdraw participation from CRIBBS, you are free to do so and you will no longer be contacted by CRIBBS staff. Will I be contacted about participating in research studies ? Yes, we will alert you if researchers are seeking volunteers for research studies. We will not give your name or contact information to the researcher, but we will provide you the contact information for the researcher and provide you a brief summary of the study. How does participation in CRIBBS help me or my child ? Participation in CRIBBS will help us learn more about the many ways BBS impacts the life and health of individuals. We will share this information through publications for the public and in professional journals. We believe that such knowledge will spark the interest of scientists, private industry, and government agencies to foster high quality care and the development of new and effective treatment strategies for individuals with BBS. Comment référer mon enfant/moi-même à la clinique BBS ? En cliquant sur ce lien , vous accéderez au questionnaire de référencement. Veuillez télécopier le 715-387-5244, envoyer un courriel ( firstname.lastname@example.org ) ou envoyer le formulaire dûment rempli à : Sonia Suda 1000 N Oak Ave - GR3 Marshfield, WI 54449 PARTICIPATE IN THE COHORT PARTICIPATE IN THE COHORT COBBALT COhorte Bardet-Biedl et Alström Translationnelle (In France) The principle is to collect clinical data from as many patients as possible in order to better understand the natural history of the disease in its most classic manifestations (vision, weight, renal function) but also to be able to identify rarer or even unknown manifestations. A quality of life study is also being carried out as well as the collection of biological samples for research purposes. The promotion of the study is under the responsibility of the University Hospital of Strasbourg and the principal investigator is Pr Hélène Dollfus. The collection of consent for the study (signature for participation) must be done on site (for the moment, a compulsory visit to Strasbourg), but afterwards the data over 5 years can be collected remotely. This study is very important because it will allow to identify the criteria on which future clinical trials can be based and also to identify more precisely the known or still poorly known characteristics of the disease and also the needs of the patients. The team of the University Hospital of Strasbourg is counting on the participation of all and awaits your call at 06 35 34 09 00 or 03 69 55 19 62 or your message at email@example.com or firstname.lastname@example.org in order to inform you at best. Reference Centre for Rare Diseases in Ophthalmological Genetics CARGO - IGMA1, Place de l'Hôpital 67091 STRASBOURG Cedex. FOR MORE INFORMATION CONTACT US