A Compendium of Pathogenesis of a Quaint but Horrific Human Genetic Disorders.

The increased body of research has resulted in a wealth of information regarding the pathogenesis of rare genetic diseases.

      Diseases that affect less than 1/2000 individuals are referred to as rare; those with a prevalence lower than 1/50000 are referred to as ultra-rare.

     Rare genetic diseases are one of the most scientifically complex health challenges of our time.     

      There are currently 7,000 known rare diseases, of which 80% are genetic origin and half of which affect children.

      Rare diseases are characterized by diversity of symptoms that vary not only disease to disease but also from patient to patient affected by same disease.     

     Rare diseases caused by altered functions of single genes can be chronically debilitating and life-limiting.

        Notwithstanding their severity, some rare diseases are compatible with a good quality of life if they are diagnosed early and optimally managed.

       Although the individual diseases are rare, they are collectively common, affecting millions of individuals worldwide.

       Unfortunately, effective therapies for these diseases are themselves comparatively rare.

       Thus, in addition to the effects on patients and their families, these diseases have a tremendous cost for health care systems and societies.

      The rapid identification of genes that are associated with human disease has revolutionized the field of medical genetics, providing more accurate diagnostic, prognostic and potential therapeutic tools.

       In addition, an improved understanding of the molecular etiology of genetic disorders is also altering the perception of disease transmission.

      An attempt has been made in this Booklet to discus the underlying pathogenesis of few horrifying quaint genetic diseases like Ectrodactyly, Proteus syndrome, Polymelia, Neurofibromatosis, Diprosopus, Anencephaly, Cutaneous horn, Harlequin ichthyosis and Cyclopia in Humans, along with plenty of ILLUSTRATIONS for better understanding.

…Dr. H. K. Saboowala.

                M.B.(Bom) .M.R.S.H.(London)