As the brain develops, each neuron must find its way to precisely the right spot to weave the intricate network of links the brain needs to function. Like the wiring in a computer, a few misplaced connections can throw off functioning for an entire segment of the brain.
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In the June 13 issue of Science Translational Medicine, an international team led by researchers from the University of California, San Diego School of Medicine reports that the new technology of exome sequencing is not only a promising method for identifying disease-causing genes, but may also improve diagnoses and guide individual patient care.
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History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals.
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Researchers at the University of California, San Francisco and in Michigan, North Carolina and Spain have discovered how genetic mutations cause a number of rare human diseases, which include Meckel syndrome, Joubert syndrome and several other disorders.
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A new study involving Canada's Centre for Addiction and Mental Health has found a gene connected with a type of intellectual disability called Joubert syndrome.
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An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.
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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.
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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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.
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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).
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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.
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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.
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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.
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