Genetic Syndromes and Related disorders

Genetic disorder is a genetic problem which is associated with the abnormalities in the genome; it may or may not be heritable. For example, cancer can be caused by some inherited genes or by new mutations or it may be environmental cause in some patients. There are many genetic disorders among them Single-gene disorder is the one which is the resultant of a single mutated gene. It includes diseases like Cystic fibrosis, Sickle-cell-anemia, Polycystic kidney disease, Hemophilia-A, Albinism. Multifactorial diseases include diabetes and heart diseases. Most of the genetic disorders can be identified at birth or in childhood like Huntington’s disease. Treatment for these genetic disorders is still a battle where around 1800 clinical trials have been completed. Presently Gene therapy is followed in which a new gene is introduced to a patient which is very complicated. The market value of products to treat genetic disorders was $12.8 billion in 2009 and $17.3 in 2014 globally.

  • Biochemical basis of disease
  • Characterization of new disorders
  • Natural history of known disorders
  • Newborn screening

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