Genes and the
their role

Genes are transcribed sequences of DNA bases that contain information that determines the composition of a polypeptide or RNA molecule.

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Genes and their role
– They determine our genetic characteristics
Genotype
– Is the unique sequence of DNA that determines the presentation of a person.
Phenotype
– Is the presentation of a person and results from the interaction between genotype and their environment.
– Predispose to properties, capabilities, behaviors
– They interact with each other
– They are affected by natural and environmental factors

What are the genetic diseases?

Genetic diseases are those caused by “changes” (mutations) in our genetic material. Some diseases are caused by mutations that are inherited from the parents and are present In an individual at birth (eg. Sickle cell disease). Some other diseases are caused by acquired mutations that occur during the life of a person. This kind of mutations are not inherited from parents, but occur either due to some environmental exposure (eg. smoking) or randomly. These include some forms of neurofibromatosis, cancers etc.

Congenital abnormalities and genetic disorders are described as the major causes of morbidity and mortality during infancy and childhood.

It is estimated that:

  • 25-39% of admissions to pediatric hospitals are due to genetic disorders.
  • 11% of pediatric deaths are related to genetic diseases.
  • They affect mainly children but also adults.
  • They are a cause of multi-system health and developmental problems.