Introduction:

A gene is the fundamental unit of heredity. It is transferred from parents to offspring and
is what dictates some characteristics of organisms. It is a specific sequence of
nucleotides located on chromosomes in DNA (deoxyribonucleic acid) or RNA
(Ribonucleic acid). Studying genetics is very important and is crucial for scientists to use
genetic information to gain comprehension of the body and its functions, diagnose,
prevent and cure diseases and make advancements in medicine.

Gene Therapy:

One of the most important reasons for studying genetics is comprehending the genetic
basis of human diseases. Though there are many genetic disorders that are untreatable
or incurable, early diagnosis has played a significant role to enhance and improve life
quality and span (Coila, 2018). A gene mutation is a permanent modification in the DNA
sequence of a gene. Gene mutations may be classified as Hereditary (inherited from
parents and present in every cell of the body throughout that person’s life) or Somatic
(present in only some cells and appear at some point in a person’s life). In order to treat
and prevent some genetic diseases, an experimental technique called Gene Therapy is
used. In gene therapy, genetic material is introduced into cells to make up for those
abnormal genes, i.e. if a mutated gene causes a protein to be defective, gene therapy
would introduce a normal copy of that gene so the protein can be functional. It is also
used to inactivate or get rid of those mutated genes and establish new genes to help
battle diseases. Gene Therapy may be risky but seems promising and is currently being
tested for diseases with no cure, such as Hemophilia and Cystic Fibrosis.
Hypothetical model: AAV-based gene therapy for hemophilia
References:

 Coila, B. (2018). The Importance of Studying Human DNA Genetics. Retrieved

from https://sciencing.com/how-molecular-scissors-can-fix-diseases-and-edit-
dna-13711520.html
 What Is A Gene? .(2020). Retrieved from
https://ghr.nlm.nih.gov/primer/basics/gene
 WHO AM I? .(n.d.) Retrieved from
http://whoami.sciencemuseum.org.uk/whoami/findoutmore/yourgenes/howdogen
esaffectyourhealth/whyisstudyinggeneticsimportant
 U.S. National Library of Medicine. (n.d.). What is a gene mutation and how do
mutations occur? .Retrieved from
https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
 U.S. National Library of Medicine. (n.d.) What is a gene? .Retrieved from
https://ghr.nlm.nih.gov/primer/therapy/genetherapy