Bardet Biedl Syndrome News and Research

RSS

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

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

Defect in the mechanics of motors that build tiny cellular hairs is the basis of Bardet-Biedl syndrome

A defect in the mechanics of motors that build tiny cellular hairs is the basis of a serious genetic disorder, according to researchers at UC Davis and Simon Fraser University, Canada.

1 Aug 2005

Mutations in newly discovered gene, NPHP5 cause Senior-Loken syndrome

Scientists at the University of Michigan Medical School have discovered a gene called NPHP5 and found mutations in this gene that cause a rare genetic disease called Senior-Loken syndrome. Children with this syndrome develop a type of cystic kidney disease called nephronophthisis, as well as a form of blindness called retinitis pigmentosa.

3 Mar 2005

Researchers have discovered that many people with Bardet-Biedl syndrome can't detect odors

Johns Hopkins researchers have discovered that many people with Bardet-Biedl syndrome (BBS), a rare, complex condition marked by an array of seemingly unconnected symptoms, including obesity, learning difficulties, eye problems and asthma, also have another, previously unreported problem

23 Aug 2004

Scientists have uncovered the identity of the last of eight genes known to contribute to Bardet-Biedl syndrome

The identification of the BBS3 gene ends the search for primary BBS-causing genes in families studied for years by a team of scientists from the United States, Canada and the United Kingdom. However, the scientists are still hunting for other, less obvious genetic influences in these families.

16 Aug 2004

Genome research sheds light on Bardet-Biedl syndrome

By comparing the genomes of an alga, a weed and humans, a team of researchers has identified a new gene behind Bardet-Biedl syndrome (BBS), a complex condition marked by learning disabilities, vision loss and obesity.

21 May 2004