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Latest Joubert syndrome Stories

2012-05-10 22:25:22

History, science and discovery come together to help family members 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. The study was conducted by researchers from the Sainte-Justine University Hospital Research Center and the...

2012-01-26 13:42:56

A team led by researchers at the University of California, San Diego School of Medicine reports that newly discovered mutations in an evolved assembly of genes cause Joubert syndrome, a form of syndromic autism. The findings are published in the January 26 online issue of Science Express. Joubert syndrome is a rare, recessive brain condition characterized by malformation or underdevelopment of the cerebellum and brainstem. The disease is due specifically to alterations in cellular...

2011-07-11 17:52:27

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. The work gives doctors new possible targets for designing better diagnostics to detect and drugs to treat these diseases, which together affect perhaps one in 200 people in the United States. On the surface, these diseases look very...

2010-10-20 19:55:01

The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders. Research developments in this area have revealed fundamental insights into the genes and molecular pathways that underlie neurological and psychiatric diseases. In a new series of review articles published by Cell Press in the October 21 issue of the journal Neuron, experts in the field discuss exciting recent advances in neurogenetics research and the potential implications for the...

2010-09-07 13:07:40

A new study in the September 6 issue of the Journal of Cell Biology (www.jcb.org) helps define the role of an important ciliary protein, CEP290. The results could be applied toward targeted gene therapy in cilia-related diseases. Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal death. CEP290 mutations are known to cause Meckel syndrome, Joubert syndrome, and NPHP"”the most common syndromic form of cystic kidney disease...

2010-09-01 05:00:00

Over 15 Million Children in America Are Estimated To Suffer From 7000 Unique Rare Diseases; Children Unite As 'Ambassadors of Hope' To Win $250K Pepsi Grant For The Global Genes Fund DANA POINT, Calif., Sept. 1 /PRNewswire-USNewswire/ -- All Kids Deserve To Have Hope For A Cure - The 'Vote4Hope' Pepsi Refresh Rare Disease Campaign starts today. The Children's Rare Disease Network (www.crdnetwork.org) and The Global Genes Project (www.globalgenesproject.org) are inviting the public, as well...

2010-05-31 13:13:10

An international group of researchers has identified the genetic cause of an inherited condition that causes severe fetal abnormalities. The work, co-led by geneticists at the UCSD Institute for Genomic Medicine, together with colleagues from institutes and universities in Paris, Rome and England, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening. The researchers' findings...

2010-05-31 13:04:07

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities. The work, co-led by geneticists at the University of Leeds, together with colleagues from institutes and universities in Paris, Rome and San Diego, should allow couples at risk of conceiving babies with the profoundly disabling Meckel-Gruber and Joubert syndromes to be identified beforehand through genetic screening. Their findings, which show how the...

2010-01-19 11:34:29

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). Their findings, which may lead to new therapies and improved diagnostics for retinal disease, will appear online in advance of publication in the journal Nature Genetics on January 17. A newly recognized class of disease known...


Word of the Day
endocarp
  • The hard inner (usually woody) layer of the pericarp of some fruits (as peaches or plums or cherries or olives) that contains the seed.
This word comes from the Greek 'endon,' in, within, plus the Greek 'kardia,' heart.
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