Genetics of Disease

  • A Guide to Pallister-Hall Syndrome

    The genetic disorder commonly referred to as Pallister-Hall Syndrome can cause severely abnormal growth and development defects in people who have a mutation in a particular zinc finger gene. This article describes both the symptoms and genetics of Pallister...
    By bjlbyron June 27, 2011 

  • Nutritional Deficiencies Linked to Lesch Nyhan Syndrome

    Lesch Nyhan Syndrome is a genetic disorder caused by the overproduction of uric acid. Are nutritional deficiency and Lesch Nyhan syndrome related? Learn more about this condition and find out.
    By Rishi Prakash June 27, 2011 

  • Guide to the Genetics of Antiphospholipid Syndrome

    Do you need more information on the genetics of antiphospholipid syndrome? If so, read on to learn about it.
    By R. Elizabeth C. Kitchen June 27, 2011 


  • Genetics of MODY

    Does MODY affect your family? If so, read on to learn more about the genetics of MODY.
    By R. Elizabeth C. Kitchen June 27, 2011 

  • Type 1 Osteogenesis Imperfecta

    Osteogenesis imperfecta, an inherited disease caused by genetic mutations affecting connective tissues in the body, has several types. This article focuses on type I osteogenesis imperfecta, its symptoms, diagnosis and the specific genes involved.
    By DulceCorazon June 27, 2011 

  • Genetics of Melanoma

    Have you or a loved one been affected by melanoma? If so, read on to learn more about the genetics of melanoma to determine if it could have played a role.
    By R. Elizabeth C. Kitchen June 27, 2011 


  • Genetics of Alpha Thalassemia

    Are you concerned about your child inheriting alpha thalassemia? If so, read on to learn more about the genetics of thalassemia.
    By R. Elizabeth C. Kitchen June 27, 2011 

  • How Is Glaucoma Inherited?

    Glaucoma, an eye disease affecting millions and the leading cause of irreversible blindness worldwide, is not a single disease entity, but a common outcome of a wide variety of ocular pathology, some genetic in basis, some not. Here we explore what is...
    By Casey Alexander Paleos, MD June 9, 2011 

  • A Guide to Sanfilippo Syndrome

    Sanfilippo Syndrome, an autosomal recessive disorder due to absent or defective enzymes, requires multidisciplinary treatment to enhance patients’ lives.
    By Emjay Annavi Baclay May 24, 2011 

  • An Overview of Weaver Syndrome

    Weaver Syndrome is a very rare growth and development disorder that has an underlying genetic cause in at least some of its sufferers. Read on to learn more about this interesting disorder and its genetic cause that is seen in some affected individuals...
    By bjlbyron May 24, 2011 
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