Bardet-Biedl Syndrome

Common Name(s)

Bardet-Biedl Syndrome, Laurence-Moon syndrome, Laurence-Moon-Bardet-Biedl syndrome

Bardet-Biedl syndrome is a genetic condition that can result from mutations to a number of different genes. The condition affects many parts of the body, and is seen in about 1 of every 150,000 newborns. The primary symptom of Bardet-Biedl syndrome is blindness, beginning with night blindness (inability to see things in low light) in late childhood. Additionally, individuals with this condition may be born with polydactly (extra fingers or toes) and develop issues with weight gain that can lead to childhood obesity. About half of all children with Bardet-Biedl syndrome have developmental problems affecting speech, behavior, or intellectual ability, but these symptoms will vary. There is currently no treatment for this condition, but scientists have identified genes which cause this condition which may contribute to research efforts. Management of the disease depends on the severity of an individual's symptoms, but may include different aids for sight as vision worsens.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bardet-Biedl Syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 19 May 2015

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Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

Last Updated: 14 Mar 2013

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

Last Updated: 3 Nov 2012

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Bardet-Biedl Syndrome" for support, advocacy or research.

Joubert Syndrome and Related Disorders Foundation

The mission of the Joubert Syndrome and Related Disorders Foundation is to support, educate, and serve individuals worldwide who are diagnosed with Joubert syndrome and other related disorders, and their families, friends, and caregivers. Our support networks create opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 19 May 2015

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Bardet Biedl Syndrome Family Association

Our Mission: Improve the lives of families affected by BBS through information, support and by advancing research and therapy Our Vision: Effective support, therapy, and treatment for all people affected by Bardet Biedl Syndrome

http://www.bardetbiedl.org/

Last Updated: 14 Mar 2013

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Foundation Fighting Blindness

The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments, and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases.

https://www.fightblindness.org

Last Updated: 3 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Bardet-Biedl Syndrome" returned 108 free, full-text research articles on human participants. First 3 results:

A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
 

Author(s): Elaine T Lim, Yangfan P Liu, Yingleong Chan, Tuomi Tiinamaija, AnnMari Käräjämäki, Erik Madsen, , David M Altshuler, Soumya Raychaudhuri, Leif Groop, Jason Flannick, Joel N Hirschhorn, Nicholas Katsanis, Mark J Daly

Journal: Am. J. Hum. Genet.. 2014 Nov;95(5):509-20.

 

Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of rare recessive variants in complex diseases termed RAFT (recessive-allele-frequency-based ...

Last Updated: 2 Dec 2014

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[Elizabethkingia meningosepticum bacteremia in a patient with Bardet-Biedl syndrome and chronic renal failure].
 

Author(s): Burcu Bayrak, Muzaffer Fıncanci, Umut Devrim Bınay, Cansu Çımen, Gülay Ulkü Özkantar Ünlügüneş

Journal: Mikrobiyol Bul. 2014 Jul;48(3):495-500.

 

Elizabethkingia meningosepticum, a gram-negative opportunistic pathogen may cause life-threatening nosocomial infections especially in newborns and immunosuppressive patients. This bacterium has a peculiar antibiotic resistance profile. It is resistant to most of the antibiotics against ...

Last Updated: 23 Jul 2014

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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
 

Author(s): Anna Lindstrand, Erica E Davis, Claudia M B Carvalho, Davut Pehlivan, Jason R Willer, I-Chun Tsai, Subhadra Ramanathan, Craig Zuppan, Aniko Sabo, Donna Muzny, Richard Gibbs, Pengfei Liu, Richard A Lewis, Eyal Banin, James R Lupski, Robin Clark, Nicholas Katsanis

Journal: Am. J. Hum. Genet.. 2014 May;94(5):745-54.

 

Homozygosity for a recurrent 290 kb deletion of NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans. A deletion of the same genomic interval has also been detected in individuals with Joubert syndrome (JBTS), and in the mouse, Nphp1 interacts genetically ...

Last Updated: 5 May 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Bardet-Biedl Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Molecular basis of the obesity associated with Bardet-Biedl syndrome.
 

Author(s): Deng-Fu Guo, Kamal Rahmouni

Journal: Trends Endocrinol. Metab.. 2011 Jul;22(7):286-93.

 

Bardet-Biedl Syndrome (BBS) is a rare human hereditary disorder associated with several features including obesity, retinopathy, renal defects, polydactyly, learning disabilities and hypogenitalism. This article discusses the abnormalities accounting for energy imbalance leading to ...

Last Updated: 5 Jul 2011

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Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.
 

Author(s): Luis Jesuino de Oliveira Andrade, Rafael Andrade, Caroline Santos França, Alcina Vinhaes Bittencourt

Journal: Arq Bras Oftalmol. ;72(5):694-6.

 

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with clinical and genetic heterogeneity. This syndrome was first described by Laurence and Moon in 1866 and additional cases were described by Bardet and Biedl between 1920 and 1922. The main features are obesity, ...

Last Updated: 22 Dec 2009

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
 

Author(s): Norann A Zaghloul, Nicholas Katsanis

Journal: J. Clin. Invest.. 2009 Mar;119(3):428-37.

 

Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to ...

Last Updated: 2 Mar 2009

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Registry Investigating Bardet-Biedl Syndrome
 

Status: Recruiting

Condition Summary: Bardet-Biedl Syndrome

 

Last Updated: 26 Dec 2014

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Inherited Retinal Degenerative Disease Registry
 

Status: Recruiting

Condition Summary: Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

 

Last Updated: 1 May 2015

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Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 6 Jan 2015

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