Contribution to Medicine by Mendel - Essay Example

What has been Mendel's Contribution to Medicine Gregor Mendel was an Austrian monk who worked with peas and discovered how characters or traits, such as, flower color were inherited through generations. However, his great work on postulations on laws governing inheritance was ignored during his lifetime (Saturday Evening Post, 2006), maybe this genius, like others, was just ahead of his time. The credits for our present boom in the science of Genetics, for the success in the battle against many diseases in the present day Medicine, the creation of human genome (Human genome sequence completed, 2006), for better and concise understanding of the genetic disorders, for innovation of their treatments, for many biotechnologic tools to formulate a drug, and above all, for creation of two different subjects, Genetics and Biotechnology, goes to his apparently simple observation-based experiments and the ingenious postulations made by him on that topic (Burbridge, 2002). The subject of Medicine that is now almost playing God, can do so for his direct and indirect contributions in this field, which we will explore in this essay, generated from his 'beautiful mind' (Nasar, S., 1998), which tried to answer a simple question, how do the traits transmit from the parents to the offspring. His studies in Botany and Mathematics proved crucial to these experiments where he could mathematically correlate the principles governing the mechanism of transmission and postulate the laws based on the observations made during his breeding experiments. His laws were, law of dominance, law of segregation, and the law of independent assortment. These groundbreaking laws without knowledge of genes or chromosomes, done amazingly simply with common edible peas have now formed the basis of human genetics, biotechnology, and DNA technology (Stern, C. et al, 1966). Chromosomes are inherited. Chromosomes contain genes that are best considered units of heredity. This is transferred to the offspring. Chemically seen, a distinct DNA sequence comprising amino acids linked by phosphate groups are transferred as hereditary units. Depending on their arrangements, like flowers in a garland, these may assume different forms in the offspring (The Concise Oxford English Dictionary, 2006). When these new genes are arranged in the chromosomes, there is possibility that they arrange in an order where two genes with opposing properties (like tall and short) may come to stay near each other, and these are known as alleles. It is being increasingly recognized that all human characters including diseases are determined by genes, and chromosomes are not identical, and they have specific locations for individual genes. Applying the same genetic principles, alleles in a chromosome locus or position may be held responsible since diseases are either expression of genetic reactions in the body or expression of environmental factors like bacteria or toxins on the human cells. Most human genetic disorders are determined by recessive allele. Presence of dominant and recessive alleles was first determined by Gregor Mendel. Normal alleles usually are dominant and mutant alleles, recessive. In this way, the chances of an offspring being affected by a disease can be predicted by the study of the alleles of the parents. This process has lead to the concept of genetic counseling; Medicine owes this to mendelian principles since genetic counseling is totally based upon mendelian genetics and probability rules. The development of this process involves analysis of fetal samples by amniocentesis in a pregnant mother (Audesirk, T. and Audesirk, G, 1996). Alkaptonuria is a genetic disorder where dysmetabolism is noticeable by discoloration of urine when exposed to air, and these children would have died prematurely with brain disorders. The gene therapy for this disease was easily discovered when it was found that this disease is inherited as an autosomal recessive pattern. This knowledge has proved to be crucial since this was the first disease to be treated using Mendel's principles. The same applies to other lethal diseases like cystic fibrosis, Duchenne muscular dystrophy, phenylketonuria (PKU), thalessemia, hemophilia, where Mendel's laws of dominance, segregation, and sex-linked inheritance, all find their application (Genetic Testing for Inherited Diseases, accessed 2007). The most brilliant application of Mendelian principles happens in gene therapy. The basis for this new science is that when there is a disease, there is a defective gene behind it, so if the abnormal gene might be replaced with a normal gene, then the cause of the disease, the defective gene would be eliminated, and the normalcy in the cellular environment would be restored. In this way, gene therapy can be and is utilized to strengthen immune functions of the body and is being increasingly used in treatment of immunological disorders. Genetic engineering offers the promise of a permanent genetic cure in certain cases, or indirectly, this technology can be used to formulate drugs for treatment of nongenetic disorders. Different diagnostic methods to detect a disease, to understand the pathologic process involved in a disease utilizing hybridization technology or recombinant DNA techniques have been possible due to the concept that so called difficult diseases generate essentially from chromosomal patterns and hence inheritance. Gregor Mendel's outstanding experiments showed the pathway of the concept of gene or chromosome (Morgan) or DNA and RNA (Watson and Crick ) and thereby genetics and to its wonderful application in Medicine and Biotechnology. It might be worthwhile to claim, Mendel in himself inserted a dominant gene into the genome of modern medicine, while unfortunately Mendel's paper was not recognized as important or widely known until 1900, and it was often proposed that the birth of genetics and modern medicine was delayed (Saturday Evening Post, 2006). Please Add to the reference list "gene n."The Concise Oxford English Dictionary, Eleventh edition revised . Ed. Catherine Soanes and Angus Stevenson. Oxford University Press, 2006. Oxford Reference Online. Oxford University Press.British Council Delhi.29 April 2007 Read More