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Key finding in rare muscle disease The finding is in the current issue of Annals of Neurology, a leading international neurology journal, in work led by Professor Nigel Laing and Dr Kristen Nowak of the Laboratory for Molecular Genetics at the Western Australian Institute for Medical Research (WAIMR) and done in collaboration with a number of European researchers. view more (2007-01-18)
Moonlighting enzyme linked to neurodegenerative disease Friedreich's ataxia is one of those diseases few have heard of unless you know someone with the condition. For that individual -- usually a child or teenager -- it is devastating. view more (2007-04-25)
Scientists close in on method to fight deadly childhood cancer A multicenter team of researchers, including scientists from the University of Florida, has discovered a way to potentially block the growth of neuroblastoma, a type of cancer responsible for 15 percent of all cancer deaths in children. view more (2008-10-16)
Fly with brain tumor may shed light on cancer causing genes A study showing how the expression of genes changes when the brain tissue of fruit flies becomes cancerous is published this week in BMC Genomics. As the function of many of these genes is conserved across evolution, the researchers expect their results will help us to understand why human brain tumors develop. The causes of brain tumor... view more... (2004-04-14)
Major gene study uncovers secrets of leukemia Investigators at St. Jude Children's Research Hospital have discovered previously unsuspected mutations that contribute to the formation of pediatric acute lymphoblastic leukemia (ALL), the most common cancer in children. view more (2007-03-08)
Hopkins geneticist discovers mutations in cancer cells that suggest new forms of treatment Researchers at Johns Hopkins have identified three new genetic mutations in brain tumors, a discovery that could pave the way for more effective cancer treatments. view more (2005-09-27)
UT Southwestern researchers identify gene linked to inherited form of fatal lung disease Researchers at UT Southwestern Medical Center have determined that a mutation in a gene known for its role in defending the lungs against invading pathogens is responsible for some inherited cases of a lethal lung disease affecting older adults. The same mutation may also be associated with lung cancer, the researchers said. view more (2008-12-22)
From a lowly yeast, researchers divine a clue to human disease Working with a common form of brewer's yeast, University of Wisconsin-Madison researchers have uncovered novel functions of a key protein that allow it to act as a master regulatory switch - a control that determines gene activity and that, when malfunctioning in humans, may contribute to serious neurological disorders. view more (2006-12-08)
Researchers identify ALS gene mutation Research that has discovered a new gene whose mutations cause 5 percent of inherited cases of ALS (amyotrophic lateral sclerosis) is part of a national study led by the Northwestern University Feinberg School of Medicine. view more (2009-02-27)
Children's Hospital researchers identify genetic mutation that may predict organ rejection Using a novel combination of cutting-edge technologies to scan the human genome, researchers at Children's Hospital of Pittsburgh of UPMC have identified a genetic mutation that identifies transplant recipients who experience rejection. view more (2008-09-16)
Colorectal cancer : A new way of increasing the efficacy of chemotherapy Inserm and CNRS research scientists and doctors at the Institut Curie have demonstrated the influence of the status - mutated or functional - of the tumour suppressor gene p53 in the response of colorectal cancer to chemotherapy. Tumours in which the p53 gene is mutated respond less well to treatment. However, by adding another agent, researchers... view more... (2004-02-27)
Mutation in deafness gene can help heal wounds and prevent infection A mutation in a gene commonly associated with deafness can play an important part in improving wound healing. view more (2006-05-08)
Genetic finding sheds light on diseases causing blood vessel breakdown Twenty-one years after they first described a fatal genetic disorder in Missouri and Arkansas families, scientists at Washington University School of Medicine in St. Louis have linked the condition to mutations in a gene known as TREX1. view more (2007-07-30)
Researchers identify 4 genetic hotspots associated with psoriasis A genomewide scan of millions of genetic mutations has revealed four new DNA "hotspots" that affect the risk for psoriasis, a national group of researchers led by the University of Michigan and including several from the University of Utah School of Medicine has shown in a just-published study. view more (2009-01-27)
Separate genetic mutations gave people, chimps bitter-taste sensitivity Humans and chimpanzees share the ability to taste, or not taste, a bitter synthetic compound called PTC-as well as numerous other toxic substances-but contrary to longstanding scientific thought, they developed that ability through separate genetic mutations. view more (2006-04-13)
HIV handicaps itself to escape immune system pressure People with the ability to stave off AIDS for years after initial infection by HIV have been called "long-term non-progressors" or "elite controllers." view more (2009-04-16)
New insight into most common forebrain malformation St. Jude Children's Research Hospital scientists have identified one of the molecular mechanisms underlying the genetic brain malformation called holoprosencephaly (HPE). The findings not only yield insights into the most common developmental malformation of the anterior brain and face in newborns, but also help in understanding the intricate... view more... (2008-08-12)
Mayo Clinic Researchers Find Gene That Contributes to Two Different and Common Neurological Movement Disorders Researchers at the Mayo Clinic campus in Florida and their collaborators worldwide have discovered that a single gene promotes development of essential tremor in some patients and Parkinson's disease in others. view more (2009-09-02)
Gene mutation responsible for premature skin aging disease identified In the new print issue of Nature Genetics, scientists in Singapore and Germany report that mutations in the PYCR1 gene cause the rare genetic condition that results in premature skin aging and that is known as "wrinkly skin syndrome." view more (2009-09-01)
COSMIC First Anniversary COSMIC First Anniversary Milestone for Cancer Mutation Catalogue Wellcome Trust Sanger Institute: issued Friday 28 January 2005 view more (2005-01-31)
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