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  • HHMI | Newswire
    Two Rockefeller University faculty members Paul D Bieniasz and Leslie B Vosshall have been named HHMI investigators and will receive stable financial support for their research over a period of several years allowing them to conduct high risk research and follow their ideas through to fruition More Tags HHMI Leslie B Vosshall Paul Bieniasz December 14 2005 Awards and Honors Paul Nurse elected trustee of HHMI The Howard Hughes Medical

    Original URL path: http://newswire.rockefeller.edu/tag/hhmi/ (2016-02-13)
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  • Scientists discover gene mutation that causes children to be born without spleen | Newswire
    causes children to be born without a spleen Medically known as isolated congenital asplenia missing spleens have been documented fewer than 100 times in the medical literature Alexandre Bolze a visiting student in the St Giles lab headed by Jean Laurent Casanova set out to identify the gene responsible for isolated congenital asplenia He and his colleagues conducted an international search for patients and identified 38 affected individuals from 23 families in North and South America Europe and Africa Bolze and his team sequenced the exomes all DNA of the genome that is coding for proteins of each of the 23 affected families After filtering two public databases of genetic information for gene variations in controls the researchers were left with more than 4 200 possible genes To narrow this list of candidate genes further Bolze hypothesized that the disease causing gene would be more frequently mutated in the affected exomes than in control exomes By cross referencing the frequency of mutations against data from patients with other types of diseases Bolze found one gene with high significance RPSA which normally codes for a protein found in the cell s protein synthesizing ribosome These results are very clear as at least 50 percent of the patients carry a mutation in RPSA says Bolze Moreover every individual carrying a coding mutation in this gene lacks a spleen The findings Bolze says are surprising because the ribosome is present in every organ of the body not just the spleen These results raise many questions They open up many research paths to understand the specific role of this protein and of the ribosome in the development of organs in humans Science Express April 11 2013 Ribosomal Protein SA Haploinsufficiency in Humans with Isolated Congenital Asplenia Alexandre Bolze Nizar Mahlaoui Bridget Turner Nikolaus Trede

    Original URL path: http://newswire.rockefeller.edu/2013/04/12/scientists-discover-gene-mutation-that-causes-children-to-be-born-without-spleen/ (2016-02-13)
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  • exome sequencing | Newswire
    responsible for a rare disorder in which children are born without a spleen which makes them susceptible to life threatening bacterial infections early in life The findings may lead to new diagnostic tests and raises new questions about the role of this gene in the body s protein making machinery More Tags exome sequencing Jean Laurent Casanova Search for Categories Science News Awards and Honors Campus News Grants Gifts Topics

    Original URL path: http://newswire.rockefeller.edu/tag/exome-sequencing/ (2016-02-13)
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  • Researchers create map of “shortcuts” between all human genes | Newswire
    shortcut in the search for disease causing mutations in monogenic diseases Itan and his colleagues including researchers from the Necker Hospital for Sick Children and the Pasteur Institute in Paris and Ben Gurion University in Israel designed applications for the use of the human gene connectome They began with a gene called TLR3 which is important for resistance to herpes simplex encephalitis a life threatening infection from the herpes virus that can cause significant brain damage in genetically susceptible children Researchers in the St Giles lab headed by Jean Laurent Casanova previously showed that children with HSE have mutations in TLR3 or in genes that are closely functionally related to TLR3 In other words these genes are located at a short biological distance from TLR3 As a result novel herpes simplex encephalitis causing genes are also expected to have a short biological distance from TLR3 To test how well the human gene connectome could predict a disease causing gene the researchers sequenced exomes all DNA of the genome that is coding for proteins of two patients recently shown to carry mutations of a separate gene TBK1 Each patient s exome contained hundreds of genes with potentially morbid mutations says Itan The challenge was to detect the single disease causing gene After sorting the genes by their predicted biological proximity to TLR3 Itan and his colleagues found TBK1 at the top of the list of genes in both patients The researchers also used the TLR3 connectome the set of all human genes sorted by their predicted distance from TLR3 to successfully predict two other genes EFGR and SRC as part of the TLR3 pathway before they were experimentally validated and applied other gene connectomes to detect Ehlers Danlos syndrome and sensorineural hearing loss disease causing genes The human gene connectome is

    Original URL path: http://newswire.rockefeller.edu/2013/03/18/researchers-create-map-of-shortcuts-between-all-human-genes/ (2016-02-13)
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  • herpes simplex encephalitis | Newswire
    More Tags herpes simplex encephalitis human gene connectome Jean Laurent Casanova November 16 2012 Science News Brain displays an intrinsic mechanism for fighting infection Researchers in the St Giles Laboratory of Human Genetics of Infectious Diseases have shed light on how a genetic defect leaves some children susceptible to a rare and damaging brain infection and have found evidence of an intrinsic immune mechanism in the brain that fights the

    Original URL path: http://newswire.rockefeller.edu/tag/herpes-simplex-encephalitis/ (2016-02-13)
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  • Brain displays an intrinsic mechanism for fighting infection | Newswire
    TLR3 detects a pathogen it triggers an immune response causing the release of proteins called interferons to sound the alarm and interfere with the pathogen s replication It s most commonly associated with white blood cells found throughout the body but here the researchers were examining the receptor s presence on neurons and other brain cells One interesting thing about these patients is that they didn t have any of the other more common herpes symptoms They didn t have an infection on their skin or their mouths just in their brains We therefore hypothesized that the TLR3 response must be specifically responsible for keeping the herpes virus from infecting the brain and not necessary in other parts of the body says Zhang The lab headed by Jean Laurent Casanova collaborated with scientists at Harvard Medical School and Memorial Sloan Kettering Cancer Institute to create induced pluripotent stem cells Made from the patients own tissue the stem cells were developed into central nervous system cells that carried the patients genetic defects Zhang exposed the cells to HSV 1 and to synthetic double stranded RNA which mimics a byproduct of the virus that spurs the toll like receptors into action By measuring levels of interferon Zhang showed that the patients TLR3 response was indeed faulty their cells weren t making these important immune system proteins leaving them unable to fight off the infection Zhang also exposed the patients blood cells to the virus and found that the TLR3 defect was not an issue there as it was in the brain interferons were released by other means Because the toll like receptors on neurons proved to be vital in preventing the encephalitis infection the researchers concluded that brain cells use it as an in house mechanism to fight infection rather than relying

    Original URL path: http://newswire.rockefeller.edu/2012/11/16/brain-displays-an-intrinsic-mechanism-for-fighting-infection/ (2016-02-13)
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  • brain | Newswire
    November 16 2012 Science News Brain displays an intrinsic mechanism for fighting infection Researchers in the St Giles Laboratory of Human Genetics of Infectious Diseases have shed light on how a genetic defect leaves some children susceptible to a rare and damaging brain infection and have found evidence of an intrinsic immune mechanism in the brain that fights the viral infection in healthy people More Tags brain herpes simplex encephalitis

    Original URL path: http://newswire.rockefeller.edu/tag/brain/ (2016-02-13)
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  • immunity | Newswire
    Brain displays an intrinsic mechanism for fighting infection Researchers in the St Giles Laboratory of Human Genetics of Infectious Diseases have shed light on how a genetic defect leaves some children susceptible to a rare and damaging brain infection and have found evidence of an intrinsic immune mechanism in the brain that fights the viral infection in healthy people More Tags brain herpes simplex encephalitis immunity intrinsic immunity Jean Laurent

    Original URL path: http://newswire.rockefeller.edu/tag/immunity/ (2016-02-13)
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