Browse Genetics by genetic disorder

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  • The Race for the $1000 Genome Project

    Fast and cheap; that's the future of gene sequencing. Dozens of companies are in a race to be the first to be able to sequence a human genome in under a day for $1000. There's big money to be made as participants believe that if analysis was more affordable many of us would take advantage of it.
    Published by Paul Arnold (15,324 pts ) on Nov 14, 2009 to
    Genetics Articles

  • A New Window on Fragile X Syndrome

    In a wide-ranging study, scientists have shown that people with Fragile X syndrome and those that are carriers for the condition experience additional problems with their health.
    Published by Paul Arnold (15,324 pts ) on Sep 18, 2009 to
    Genetics Articles

  • New Genetic Disorder of the Liver Discovered

    Scientists from Germany's Heidelberg University Hospital have discovered a new genetic disorder. A mutated gene leads to loss of function of some liver cells and may go some way to explaining some of the causes of liver cirrhosis.
    Published by Paul Arnold (15,324 pts ) on Sep 9, 2009 to
    Genetics Articles

  • Facts About Angelman Syndrome, A Genetic Disorder

    Angelman syndrome is a neuro-genetic disorder that primarily affects the nervous system. It comes about as a result of defects or mutations of a gene that sits on the maternally inherited chromosome 15.
    Published by Paul Arnold (15,324 pts ) on Aug 17, 2009 to
    Genetics Articles

  • Neurofibromatosis: An Autosomal Dominant Genetic Disorder

    Neurofibromatosis is an autosomal dominant genetic disorder that produces non-cancerous tumors in the nerve cells and along the skin. The problems are caused by the growths compressing nerves and tissues.
    Published by Nirvanagrewal (1,966 pts ) on Jun 27, 2009 to
    Genetics Articles

  • Basic Facts about Becker’s Muscular Dystrophy

    Becker’s muscular dystrophy (BMD) is an X-linked recessive disease. In common with some other (but not all) muscular dystrophies it is an inherited genetic mutation of the dystrophin gene, which lies on the X chromosome.
    Published by Paul Arnold (15,324 pts ) on Mar 31, 2009 to
    Genetics Articles

  • Genetics and Characteristics of Down's Syndrome

    Trisomy 21, Mosaicism or Robertsonian Translocation are the primary causes of the development of the genetic disorder known as Down's Syndrome. It's named after the British doctor John Langdon Down, who described the condition in 1866.
    Published by Ricky (22,000 pts ) on Nov 25, 2008 to
    Genetics Articles

  • Genetics of Marfan Syndrome

    Marfan syndrome is a genetic disorder of the connective tissue and is caused by mutations in the FBN1 gene on chromosome 15. It's believed to affect 1 in 5,000 people and its most noticeable characteristics are a tall, thin physique.
    Published by Ricky (22,000 pts ) on Oct 31, 2008 to
    Genetics Articles

  • Genetics of Noonan Syndrome

    Named after the pediatric cardiologist Jacqueline Noonan, this is a genetic disorder which occurs both in men and as well females. The disorder manifests itself in various organs of the body. Some symptoms are externally visible while others are harder to find.
    Published by Ricky (22,000 pts ) on Oct 23, 2008 to
    Genetics Articles

  • Gene Discovered for Anencephaly, a Fatal Birth Defect

    Anencephaly, a rare birth defect, has a genetic cause. The gene responsible for anencephaly has been discovered in mice, opening up the door to genetic testing and therapies for this genetic disorder.
    Published by Rafael B. (8,334 pts ) on Oct 16, 2008 to
    Genetics Articles


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