Bardet Biedl Syndrome News and Research

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Bardet-Biedl syndrome (BBS) is a genetically heterogeneous human obesity syndrome associated with ciliary dysfunction.

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Ian was ‘a clumsy child’. He kept bumping into objects and couldn’t see well in the dark. He endured 15 years of tests and misdiagnoses during a lengthy, and sometimes traumatic, diagnostic odyssey.

26 Aug 2015

RPB grants $500,000 to accelerate treatments for Retinitis Pigmentosa

Research to Prevent Blindness (RPB), the leading eye research foundation, is providing $500,000 to accelerate the development of treatments for Retinitis Pigmentosa (RP) -- a family of retinal diseases that progressively create extreme tunnel vision, loss of night vision and leave affected patients legally blind by the age of 40.

5 Jun 2014

Researchers create 3D map of rod sensory cilium architecture affected by mutation

Using a new technique called cryo-electron tomography, two research teams at Baylor College of Medicine (www.bcm.edu) have created a three-dimensional map that gives a better understanding of how the architecture of the rod sensory cilium (part of one type of photoreceptor in the eye) is changed by genetic mutation and how that affects its ability to transport proteins as part of the light-sensing process.

23 Nov 2012

Two genetic factors strongly associated with non-syndromic sagittal craniosynostosis

An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis ― premature closure of the bony plates of the skull.

18 Nov 2012

Scientists restore sense of smell in mice through gene therapy

Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can't smell anything from birth or lose it due to disease.

3 Sep 2012

Functional tests are necessary to understand human disease despite genetic sequencing

Despite what you might have heard, genetic sequencing alone is not enough to understand human disease. Researchers at Duke University Medical Center have shown that functional tests are absolutely necessary to understand the biological relevance of the results of sequencing studies as they relate to disease, using a suite of diseases known as the ciliopathies which can cause patients to have many different traits.

24 Jan 2011

Study implicates Fritz's role in human genetic disorders

Mutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.

31 Jul 2010

Researchers use zebrafish as model to analyze function of every known mutation in BBS

A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes. They used zebrafish as a model to analyze the function of every known mutation in an inherited syndrome called BBS, Bardet-Biedl Syndrome.

25 May 2010

Gene implicated in JSRDs: UCD research team publishes new information

Researchers in University College Dublin (UCD) led by Conway Fellow, Dr Oliver Blacque have revealed new information about a gene implicated in Joubert syndrome and related cerebellar disorders (JSRDs) that are characterised by blindness, bone abnormalities, cystic kidneys, developmental delay and loss of muscle tone and control. The findings from this research, which is funded by Science Foundation Ireland, have been published today in a leading science journal, Journal of Cell Biology.

22 Mar 2010

In retinal disease, sight may depend on second sites

If two people have the same genetic disease, why would one person go blind in childhood but the other later in life or not at all? For a group of genetic diseases - so-called ciliary diseases that include Bardet-Biedl syndrome, Meckel-Gruber syndrome, and Joubert syndrome - the answer lies in one gene that is already linked to two of these diseases and also seems to increase the risk of progressive blindness in patients with other ciliary diseases. The findings are published online this week at Nature Genetics.

12 May 2009

Hopkins researchers piece together gene "network" linked to schizophrenia

Reporting this week in the Archives of General Psychiatry, researchers at the Johns Hopkins University School of Medicine have uncovered for the first time molecular circuitry associated with schizophrenia that links three previously known, yet unrelated proteins.

2 Sep 2008

Genetic research unveils common origins for distinct clinical diagnoses

Researchers at Johns Hopkins have discovered that two clinically different inherited syndromes are in fact variations of the same disorder.

10 Mar 2008

Bardet-Biedl syndrome provides clues on obesity, blood pressure

University of Iowa researchers have found a clue about how resistance to the hormone leptin might disrupt the brain signals that tell the body when to stop eating.

4 Mar 2008

Researchers spearhead key genome initiative

The complete collection of genes - the genome - of a moss has been sequenced, providing scientists an important evolutionary link between single-celled algae and flowering plants.

17 Dec 2007

New role discovered for cilia

Johns Hopkins researchers and colleagues have found a previously unrecognized role for tiny hair-like cell structures known as cilia: They help form our sense of touch.

22 Oct 2007

Neutral genetic drift

Johns Hopkins researchers have added to the growing mound of evidence that many of the genetic bits and pieces that drive evolutionary changes do not confer any advantages or disadvantages to humans or other animals.

10 Jul 2007

Cilia research may help find cure for inherited eye diseases

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases.

23 Jun 2007

Hopkins develops online tool to aid research on certain "orphan diseases"

Many people are afflicted with rare illnesses of unknown cause, and finding a common link to such under-studied or "orphaned" diseases as Bardet-Biedl, Alstrom and Meckel-Gruber syndromes can significantly advance the search for causes and treatment.

31 Aug 2006

Researchers link novel mutated gene to mental retardation and imbalance syndrome

Researchers at the University of California, San Diego School of Medicine have identified a genetic cause for a form of pediatric brain malformation involving the cerebellum.

11 May 2006

Mutated gene leads to JSRD

The research team, directed by Joseph Gleeson, M.D., Director of the Neurogenetics Laboratory at the UCSD School of Medicine and associate professor in the Department of Neurosciences, have identified a new gene that, when mutated, leads to JSRD. Their findings will be published on-line in advance of publication in the journal Nature Genetics.

8 May 2006