Bardet-Biedl Syndrome Overview
Learn About Bardet-Biedl Syndrome
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.
Bardet-Biedl syndrome can result from mutations in at least 14 different genes (often called BBS genes). These genes are known or suspected to play critical roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell). The proteins produced from BBS genes are involved in the maintenance and function of cilia.
In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin population of Kuwait, affecting about 1 in 13,500 newborns.
Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Cedars-Sinai Medical Center
Robert Siegel is a Cardiologist in West Hollywood, California. Dr. Siegel and is rated as an Advanced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Mitral Valve Regurgitation, Aortic Regurgitation, Atrial Septal Defect (ASD), Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).
Alaina Vidmar is an Endocrinologist in Los Angeles, California. Dr. Vidmar and is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. Her top areas of expertise are Obesity, Obesity in Children, Diabetic Ketoacidosis, Congenital Adrenal Hyperplasia (CAH), and Sleeve Gastrectomy.
Providence Medical Institute
Apostolos Psychogios is a Medical Genetics provider in Burbank, California. Dr. Psychogios and is rated as an Experienced provider by MediFind in the treatment of Bardet-Biedl Syndrome. His top areas of expertise are Ehlers-Danlos Syndrome (EDS), Musculocontractural Ehlers-Danlos Syndrome (mcEDS), Vascular Ehlers-Danlos Syndrome (VEDS), and Brittle Cornea Syndrome.
Summary: TITLE: Whole genetic approach in Early Genetic Identification of Obesity (WEGIO) DESIGN: Multicenter epidemiological study STUDY POPULATION: Participants at risk for a syndromic or a monogenic genetic obesity, incl. participants clinically diagnosed with Bardet-Biedl-Syndrome (BBS) NUMBER OF PARTICIPANTS: 1000 for initial genetic sequencing and app. 40 for the follow-up documentation COORDINATING ...
Summary: In 2005, The University of Alabama at Birmingham established a NIDDK-funded, interdisciplinary center of excellence in PKD-related research, with specific emphasis on recessive PKD. In the previous Core Center award period, we developed a Core Resource to capture clinical and mutational data for ARPKD patients (Core A: ARPKD Clinical and Genetic Resource, NCT00575705). However, studies in the last...
Published Date: September 01, 2013
Published By: National Institutes of Health