GENETIC DISORDER:

A genetic disorder is a genetic problem caused by one or

more abnormalities in the genome, especially a condition that is present from
birth (congenital). Most genetic disorders are quite rare and affect one person in
every several thousands or millions.
1. Etiology / Cause

As we unlock the secrets of the human genome (the complete set of human
genes), we are learning that nearly all diseases have a genetic component. Some
diseases are caused by mutations that are inherited from the parents and are
present in an individual at birth, like sickle cell disease. Other diseases are caused
by acquired mutations in a gene or group of genes that occur during a person's
life. Such mutations are not inherited from a parent, but occur either randomly or
due to some environmental exposure (such as cigarette smoke). These include
many cancers, as well as some forms of neurofibromatosis.

2. Possible Treatment / Management

-Therapy
Treatment of genetic disorders also has a long history, mainly through the
treatment of inborn errors of metabolism. As noted previously, this is
usually managed by an expert in biochemical genetics working together with
a primary care physician. As the pathophysiology of other genetic conditions
has come to be understood, additional disorders are amenable to
treatment; for example, cystic fibrosis [24], Duchenne muscular
dystrophy [25], and lysosomal storage disorders [26]. In most cases,
treatment is managed by a specialist who is most familiar with the disorder
and its natural history; for example, a neurologist with expertise in
neuromuscular disease would treat a patient with Duchenne muscular
dystrophy