Inherited Traits & Mutations

  • Understanding the Genetics of DiGeorge Syndrome

    DiGeorge syndrome is a rare and complex genetic disorder. It's caused by a loss or deletion of genes from chromosome 22 during early foetal development.
    Published by Paul Arnold (15463 pts) on Oct 23, 2009 to
    Genetics Articles

  • What Is Skeletal Dysplasia?

    What is skeletal dysplasia - or more accurately, what are the skeletal dysplasias? There are many conditions constituting this heterogeneous group - but what are the causes and qualities which unite them? This article aims to look at the current state of knowledge regarding diagnosis and etiology.
    Published by Ollie Hicks (1358 pts) on Oct 21, 2009 to
    Genetics Articles

  • What is Prune Belly Syndrome?

    Prune belly syndrome: what is it, what are the causes and what are the treatments? The name is intriguing - but what are the realities of living with the condition? In this article we take a look at what is currently known about Prune belly syndrome.
    Published by Ollie Hicks (1358 pts) on Oct 21, 2009 to
    Genetics Articles

  • Facts about Pfeiffer Syndrome

    Pfeiffer syndrome is a genetic disorder that affects 1 in 100,000 births and is characterised by the premature fusion of skull bones.
    Published by Paul Arnold (15463 pts) on Oct 19, 2009 to
    Genetics Articles

  • What is Von Hippel-Lindau Syndrome?

    Von Hippel-Lindau syndrome, known as VHL, is an inherited autosomal dominant disease that causes tumors throughout various regions of the body. The symptoms and the characteristics of VHL are actually quite different from patient to patient, making the diagnosis of this disease often problematic.
    Published by dgemmellaro (1525 pts) on Oct 13, 2009 to
    Genetics Articles

  • Human Evolution: Opposable Thumbs and Walking

    A landmark study is shedding light on an important aspect of our genetic and physical evolution. Scientists have discovered that a region of DNA once dismissed as junk may have contributed to the development of opposable thumbs and our ability to walk on two legs.
    Published by Paul Arnold (15463 pts) on Oct 9, 2009 to
    Genetics Articles

  • What Can Cause Cleft Lip?

    For the first time scientists have discovered a specific gene variant that has been linked to cleft lip alone, rather than cleft lip and palate. It provides an insight into a previously unknown genetic mechanism.
    Published by Paul Arnold (15463 pts) on Oct 8, 2009 to
    Genetics Articles

  • What is Alpers Disease?

    Alpers disease is an autosomal recessive condition that leads to a gradual reduction of brain gray matter. It occurs primarily in children and is characterised by developmental delay, mental retardation, seizures, and spasticity.
    Published by Paul Arnold (15463 pts) on Oct 7, 2009 to
    Genetics Articles

  • Cancer Research: Bowel Cancer and Genes

    Bowel cancer is a disease of the colon or rectum, often called colorectal cancer. If diagnosed early enough the prognosis is generally good but it's usually asymptomatic in the early stages so spotting it is difficult. The discovery of a new bowel cancer gene could help with diagnosis and therapy.
    Published by Paul Arnold (15463 pts) on Oct 7, 2009 to
    Genetics Articles

  • What is Fabry Disease?

    Fabry disease is a rare genetic disorder which results in the build up of fatty deposits to dangerous levels in the body causing system wide problems. The fault lies with an inherited deficiency in the enzyme alpha galactosidase A which under normal conditions breaks down lipids.
    Published by Paul Arnold (15463 pts) on Oct 6, 2009 to
    Genetics Articles

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