Cell biology is the study of cell structure and how it fundamentally gives organisms their function, there are approximately 25,000 protein-coding genes in the human genome, within this only about 60% of the human genes have an identifiable sequence homology within the protein database. Human cells are Eukaryotic as they contain a nucleus, which holds chromosomes (the primary genetic material), & transcribing enzymes. The term ‘Cell’ first came about in 1665 by Robert Hooke and in 1675 the shape and nucleus within different cells were observed by Anton van Leewenhoek. It was then in 1865 when Gregor Mendel introduced the laws of inheritance, and with genetic testing now becoming more popular in medical research, we are entering an era of pathological discoveries.
Genetic diseases occur in the gametes before contraception, this can then be tested through chromosomal, biochemical and DNA- based techniques during or after pregnancy by taking a biological sample from the blood, tissue or amniotic fluid. Locating and isolating a gene that causes a disease is important in cell research as elucidating the structure and function of the gene can lead to a diagnosis and treatment. The association between genetic information and gene expression is essential in making advancements in correcting genetic diseases and hereditary variation (mutation in germ cells), this is due to changes in the coding of the nucleotides.
The Human Genome Project was a program launched using shot-gun sequencing method to find the whole human genome sequence, it was completed by 2003 reporting that 20,000 to 23,000 genes were present in the human genome revealing the complete sequence. This therefore improved sequencing technology allowing amplification of the gene of interest to reveal mutations causing specific monogenic disorders.
Genetic engineering is the modification of genetic information by DNA manipulation, for example, a gene which has a known function can be transferred from its cell by a vector (plasmid) and is replicated and handed over to its offspring. Clinical trials for gene therapy are being tested as a form of treatment for genetic diseases by implanting new genetic instructions (through a virus vector or plasmid) into the patients’ tissues, to manipulate gene expression in order to correct or replace the faulty gene.
Cystic fibrosis is a recessive hereditary disease that often is caused by specific deletion of three base pairs due to a mutation. This causes an abnormal cystic fibrosis transmembrane regulator protein to be produced or it not to be produced at all, therefore then causes thick sticky mucus to be produced. Gene therapy used to treat cystic fibrosis has been studied in clinical trials over the 21st century, development in treatment and through trials has shown gene transfer to the epithelium to be a beneficial way of treatment as well as stem cell therapy, trans-splicing, and gene repair. Through trials we have found more effective ways of treatment, for example, the use of Adeno-associated virus serotype 2 with capsids from serotypes 1,5 & 6 were seen to be more efficient for lung gene therapy in transducing airway epithelial cells than the first AAV-based vector which was assessed.
In spite of all, genetic diseases impact a significant proportion of the population, & due to the insufficient information on a lot of diseases, treatment is often limited. This is a result of the pharmaceutical & biotechnology industries failing to see the financial advantages in developing a treatment for many diseases. However, technological advances allow a better understanding of rare diseases, more recently facilitating diagnosis & treatment through the use of DNA sequencing and analysis.
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