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Latest Bardet-Biedl syndrome Stories

2012-04-25 09:45:04

Primary cilia are hair-like structures which protrude from almost all mammalian cells. They are thought to be sensory and involved in sampling the cell's environment. New research, published in BioMed Central's open access journal Cilia, launched today, shows that cilia on cells in the retina and liver are able to make stable connections with each other - indicating that cilia not only are able to sense their environment but are also involved in cell communication. Primary cilia are...

2011-12-14 10:10:38

A new study, conducted by researchers at the University of California, San Francisco, has shed new light on a genetic disease known as Bardet-Biedl syndrome (BBS)–a condition in which patients show mental and developmental delays, short stature, early onset blindness, extra digits on the hands and feet, kidney abnormalities and obesity. While the occurrence of BBS is rare–occurring in roughly 1 in every 150,000 live births–scientists believe that by understanding the...

2011-04-06 23:04:59

An international team of scientists lead by researchers from Duke University and Johns Hopkins University have discovered a key "switch" in the brain that allows neurons to stop dividing so that these cells can migrate toward their final destinations in the brain. The finding may be relevant to making early identification of people who go on to develop schizophrenia and other brain disorders. "This work sheds light on what has been a big black box in neuroscience," said Nicholas Katsanis,...

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2011-01-24 08:10:00

Despite what you might have heard, genetic sequencing alone is not enough to understand human disease. Researchers at Duke University Medical Center have shown that functional tests are absolutely necessary to understand the biological relevance of the results of sequencing studies as they relate to disease, using a suite of diseases known as the ciliopathies which can cause patients to have many different traits. "Right now the paradigm is to sequence a number of patients and see what may be...

2010-06-25 13:25:23

Nearly all mammalian cells have what's called a primary cilium "” a single, stump-like rod projecting from the smooth contours of the cell's outer membrane. Unlike its more flamboyant cousins, the motile cilia, which beat industriously in packs to clear our airways of mucous or to shuttle a fertilized egg to the uterus, the primary cilium just "¦ sits there. Like a bump on a log. In fact, it looks so useless that, until recently, many scientists considered it to be just a...

2010-05-24 14:57:03

A research team led by scientists from the Duke University Medical Center has developed a way to simultaneously look at the effects of 125 mutations occurring on 14 different genes. They used zebrafish as a model to analyze the function of every known mutation in an inherited syndrome called BBS, Bardet-Biedl Syndrome. Being able to analyze the functions and interactions of all mutations in a complex inherited disease could have implications for a broad range of disorders. The study found...

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2009-12-28 09:33:28

A protein complex mutated in human disease removes excess signaling molecules to prevent them from damaging cilia, say researchers from UMass Medical School. The study will be published in the December 28 issue of the Journal of Cell Biology. Defective cilia cause a range of diseases including Bardet-Biedl syndrome (BBS), a rare, multi-tissue disorder linked to mutations in 12 different proteins. Seven of these form a complex called the BBSome, but the function of this protein assembly in...

2009-08-10 11:40:08

U.S.-led researchers have discovered a connection between mutations in the INPP5E gene and ciliopathies, a newly emerging group of diseases. The international team of scientists, led by Dr. Joseph Gleeson, a professor at the University of California-San Diego School of Medicine, said the findings might lead to new therapies for the diseases that are caused by defects in the function or structure of cellular primary cilia, which are small cellular appendages of previously unknown function. The...

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...

2008-08-20 15:01:11

U.S.-led scientists say they've identified a critical protein complex in the growth of cell cilia that might have a key role in many serious diseases. The team led by the New York University Cancer Institute said the protein complex regulates the formation of primary cilia, which are found on virtually all mature human cells and are essential to normal cell function. The researchers led by Professor Brian Dynlacht, director of the institute's Genomics Facility, said the antenna-like...


Word of the Day
attercop
  • A spider.
  • Figuratively, a peevish, testy, ill-natured person.
'Attercop' comes from the Old English 'atorcoppe,' where 'atter' means 'poison, venom' and‎ 'cop' means 'spider.' 'Coppa' is a derivative of 'cop,' top, summit, round head, or 'copp,' cup, vessel, which refers to 'the supposed venomous properties of spiders,' says the OED. 'Copp' is still found in the word 'cobweb.'
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