Joubert Syndrome News and Research

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Joubert syndrome is a rare genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.

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

Researchers gain new understanding of cilial protein Arl13b in Joubert syndrome

Researchers in Ireland have gained new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS), a rare disorder characterized by developmental delay, mental retardation, and low muscle tone, among other symptoms.

16 Mar 2010

Global Genes Project: World Rare Disease Day 2010, a tremendous success

The Global Genes Project, a worldwide rare disease awareness initiative, today announced the success from its World Rare Disease Day 2010 efforts and laid out plans for future rare disease awareness campaigns.

8 Mar 2010

CAMH signs licensing agreement with US-based Athena Diagnostics to market new genetic test

For the second time in as many months the Centre for Addiction and Mental Health has signed a licensing agreement with US-based Athena Diagnostics Inc. to market a new genetic test.

From Thermo Fisher Scientific Inc. 26 Feb 2010

Joubert Syndrome - an inherited neurological disease found among Ashkenazi Jews

Two scientists from Cold Spring Harbor Laboratory (CSHL) are part of an international team that has discovered a genetic mutation that causes Joubert Syndrome. JBTS, as it is commonly called, is a devastating inherited neurological disease that is very rare in the general population but found relatively more often among Ashkenazi Jews.

18 Jan 2010

Scientists discover new links between inherited blindness and AHI1 gene

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine have discovered new links between a common form of inherited blindness affecting children and a gene known as Abelson helper integration site-1 (AHI1).

18 Jan 2010

Scientists discover link between mutations in INPP5E gene and ciliopathies

An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have discovered a connection between mutations in the INPP5E gene and ciliopathies. Their findings, which may lead to new therapies for these diseases, will appear in the online edition of Nature Genetics on August 9.

9 Aug 2009

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

Genetic link between cats and humans for retinitis pigmentosa

About one in 3,500 people are affected with retinitis pigmentosa (RP), a disease of the retina's visual cells that eventually leads to blindness.

4 Mar 2009

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

New genetic cause for Joubert syndrome

An international study by researchers at Seattle Children?s Hospital Research Institute, the University of Washington School of Medicine, and Radboud University in Nijmegen, Netherlands has identified a new genetic cause for Joubert syndrome (JS).

15 Jun 2007

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

Significant step forward in the genome era

In what promises to be a significant step forward in the genome era, the National Human Genome Research Institute (NHGRI) today announced plans to devote a portion of its large-scale sequencing capacity to efforts aimed at identifying the genetic roots of specific diseases that have long eluded gene hunters.

17 Oct 2005

Discovery of the gene for a form of Joubert Syndrome

Researchers at the University of California, San Diego (UCSD) School of Medicine have discovered the gene for a form of Joubert Syndrome, a condition present before birth that affects an area of the brain controlling balance and coordination in about 1 in 10,000 individuals.

21 Oct 2004