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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

Bardet-Biedl RESOURCES

Info x Medical centre & contacts Prof. Miriam Zacchia Prof Zacchia practices in Naples, Italy. She is highly rated in 4 conditions, her top areas of expertise are Bardet-Biedl syndrome, Alport syndrome, low potassium level, nephrogenic diabetes insipidus and kidney transplant. Her clinical research consists of co-authoring 66 peer reviewed articles in the past 15 years. About us : Qualifica : Professore Associato Settore scientifico disciplinare : MED/14 Dipartimento di afferenza : Dipartimento di Scienze Mediche Traslazionali Telefono : 0815666650 E-mail : miriam.zacchia@unicampania.it Pubblicazioni : https://iris.unicampania.it/simple-search?location=&query=&filtername=author&filtertype=authority&filterquery=rp00036&rpp=1000&sort_by=bi_sort_2_sort&order=desc ​ Miriam Zacchia, M.D.,Ph.D, is a Junior Nephrologist at the Department of Translational Medical Sciences of the University of Campania, L. Vanvitelli (Naples, IT). She has been trained in basic research and molecular biology at Yale University, CT (USA), focusing her studies on the cell signalling regulating renal citrate transport. ​ Currently, Dr. Zacchia takes care of patients with genetic kidney diseases of the Nephrology, especially rare syndromic ciliopathies, as Bardet-Biedl Syndrome. ​ Her research interests are mainly focused on the genetic basis of hereditary kidney diseases (including glomerulopathies, tubulopathies, ciliopathies and CAKUT). In addition, her studies aim to improve the understanding of the pathophysiology of kidney dysfunction in Bardet-Biedl syndrome, by using multiple approaches, as metabolomics and proteomics studies of patients’ urine samples and experimental models of disease.

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

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

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

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 ?

ON-GOING RESEARCH The research Unit, including the Section of Nephrology of the University of Campania L. Vanvitelli (Naples) and its partner Biogem Scarl, a research centre in Ariano Irpino, is working on several lines of research: The construction of a database of Italian BBS patients Patients with the clinical diagnosis of BBS, those suspected of having BBS are referred to the clinic dedicated to rare kidney disorders. Basic medical examinations, genetic analysis and follow-up exams are guaranteed for adult patients with a multi-disciplinary management, according to the patients’ needs which include : Ophtalmologists, endocrinologists, neurologists & geneticists. Clinical studies Observational analysis of metabolic parameters and renal function over time; correlation of clinical data with genotype. Analysis of BMI, the estimated glomerular filtration rate slope per year. Translational studies Proteomics and metabolomics analysis of patients’ urine, to find biomarkers of disease and also to decipher the pathophysiology of the disease. Pre-clinical studies The development of cellular and mice models of BBS to elucidate aberrant downstream signalling pathways of BBS genetic mutations.

El síndrome de Bardet-Biedl (SBB) es una enfermedad genética multisistémica poco frecuente en población caucásica (está estimada 1/150.000), caracterizada por una pronunciada variabilidad fenotípica y una gran heterogeneidad genética. Pertenece al grupo de las ciliopatías, causadas por defectos en la estructura y/o función ciliar. El trastorno se trasmite principalmente de manera autosómica recesiva pero se ha detectado herencia oligogénica en algunos casos. Hasta ahora, se han identificado mutaciones en 24 genes diferentes. Este trastorno está caracterizado por una combinación de síntomas clínicos: obesidad, retinopatía pigmentaria, polidactilia post-axial, riñones poliquísticos, hipogenitalismo y trastornos de aprendizaje, muchos de los cuales aparecen muchos años después de la aparición de la enfermedad. La expresión clínica es variable pero muchos de los pacientes manifiestan la mayoría de los síntomas clínicos durante el curso de enfermedad. La retinopatía pigmentaria es el único síntoma clínico constante después la infancia. El SBB puede también estar asociado con otras manifestaciones graves incluida diabetes, hipertensión, cardiopatía congénita y enfermedad de Hirschsprung . El amplio espectro clínico observado en el SBB está asociado a una significativa heterogeneidad genética. Contactador

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.

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