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Latest Joubert syndrome Stories

2012-05-10 22:25:22

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.

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.

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.

2010-10-20 19:55:01

The last two decades have seen tremendous progress in understanding the genetic basis of human brain disorders.

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.

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.

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.

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.

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).


Word of the Day
megalophonous
  • Having a loud voice; vociferous; clamorous.
  • Of grand or imposing sound.
The word 'megalophonous' comes from Greek roots meaning 'big' and 'sound'.