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Latest Senior-Løken syndrome Stories

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...

2009-08-04 11:29:14

In the September 1st issue of G&D, Dr. Karen Oegema (UCSD) and colleagues identify the molecular basis of the lethal developmental disorder, hydrolethalus syndrome, and reveal that hydrolethalus syndrome actually belongs to the emerging class of human ciliopathy diseases."5 years ago a human genetics study linked Hydrolethalus syndrome to a mutation in a protein named HYLS1. Since this discovery the function of HYLS1 has remained unknown. Our work solves this mystery, showing that HYLS1...

2009-05-11 07:39:13

The mystery of genetic disease is only partially solved with the identification of a mutated gene. Often, the pattern of disease "“ the features or disorders associated with it "“ vary in type and severity among those who are affected. Scientists, physicians and patients all ask why. In this week's journal Nature Genetics, an international consortium of researchers, including some from Baylor College of Medicine, provide not only an explanation for the variations of vision loss in...


Word of the Day
jument
  • A beast of burden; also, a beast in general.
'Jument' ultimately comes from the Latin 'jugum,' yoke.
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