Résultats de recherche

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

Bardet-Biedls Syndrom (BBS) kännetecknas av en kombination av synnedsättning, övervikt, extra fingrar och/eller tår, små könsorgan, nedsatt njurfunktion och inlärningssvårigheter. Andra symtom förekommer också. ​ Bardet-Biedls syndrom ingår i en grupp sjukdomar som kallas ciliopatier och orsakas av en skada i de primära cilierna. En primär cilie är ett orörligt utskott, ett slags antenn på cellytan som samordnar många funktioner som är av betydelse för cellfunktioner som rörelse, syn, känsel och cellsignalering. Störd ciliefunktion kan leda till avvikelser i fosterutvecklingen och ge missbildningar i många olika organ. Hos ungefär 80 procent av alla med Bardet-Biedls syndrom har det varit möjligt att påvisa en sjukdomsframkallande mutation. De vanligaste mutationerna finns i BBS1 (23 procent), BBS2 (8 procent) och BBS10 (20 procent). ​ Hittills (2022) finns mutationer rapporterade i 24 olika gener, som alla är inblandade i tillverkning eller reglering av proteiner som är av betydelse för normal cilieformation och funktion. ​ Kontakta oss

Establishment of an expert panel for BBS led by 3 doctors (Helen May-Simera, Carsten Bergmann, Metin Cetiner) : An expert committee is being set up from various doctors and representatives of the patient group in order to coordinate current research aspects for BBS in Germany. In addition to 2 representatives of the patient group, a nephrologist, a human geneticist, an ophthalmologist and a microbiologist are represented in this committee. ​ Research for the immune system with BBS led by doctor Wartsen : At the end of 2021, a new research project was launched at the University Hospital in Bonn to investigate the thesis that BBS sufferers have a stronger immune system than non-affected people and as a result are less susceptible to everyday illnesses such as flu. In May 2022, this research project will be presented to the BBS Germany patient group at a Zoom meeting. ​ Neocyst Project : NEOCYST is a research project on cystic kidney disease in children. It is implemented by a network of clinicians, geneticists and scientists. The project is funded by the Federal Ministry of Education and Research (BMBF) and supported by the Society for Paediatric Nephrology (GPN). ​ The NEOCYST study aims to gain a better understanding of cystic kidney disease and Bardet-Biedl syndrome. The knowledge gained should be used to improve : Targeted diagnosis, sound advice and and lead to the development of future therapeutic approaches. Opportunities for participation Patients of all ages who have been diagnosed with BBS can participate. Participation in the project is based on a detailed questionnaire. The questionnaire is to be filled in by the treating physician. Patient data are stored and collected in a pseudonymised form, so that no conclusions can be drawn about the individual person. ​ NEOCYST contact for interested parties Dr. Metin Cetiner, University Hospital Essen Hufelandstraße 55, 45147 Essen Mail: Metin.Cetiner@uk-essen.de

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

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 ?

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.

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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