Suggest some of the medical advances that may come from your understanding of the human genome?

Answer 1

The completion of the sequence was announced jointly in February 2001 in the journals Nature{2} and Science{3}. Both Science and Nature have made these landmark issues available, without subscription, on their websites.

The importance of recognizing the sequence of a particular gene has three important ramifications.{4} The first is diagnosis. Over the last few years, single genes have been found leading to deafness and epilepsy. Numerous genes, however, will influence most diseases in complex ways. Recently, genetic influences have been found in many forms of hypertension, Diabetes, obesity, Heart disease, and arteriosclerosis{5}. Genetic analysis of cancer tumors may someday help determine the most effective drug therapy with the fewest side effects. Genetic diagnosis has the potential to more precisely prescribe treatments for many medical conditions.

Second, diagnosing ailments with more precision with genetics will also lead to more reliable predictions about the course of a disease. Genetic information about an individual's cholesterol chemistry will aid in predicting the course of potential heart disease. Obtaining a genetic fingerprint of a cancerous tumor will provide information concerning its degree of malignancy. Third, more precise genetic information will also lead to the development of better strategies for prevention of disease.

Many more ailments in newborns can eventually be screened more specifically to avoid disorders later in life. Currently, babies in the U.S. and other countries are routinely screened for PKU, a metabolic disorder that prevents the breakdown of a specific amino acid found in proteins. This condition becomes toxic to the nervous system, but can be prevented and managed with appropriate diet. Without dietary changes, affected babies face extreme mental retardation. Hopefully, the number of conditions this type of screening applies to can be expanded.

Screening can also be done for adults, to see if they may be carriers of potential genetic conditions. Certain Jewish and Canadian populations regularly obtain voluntary screening for Tay-Sachs disease, a known child-killer. This information has been used to help make decisions about future marriage partners.

Perhaps the greatest benefit will come from what is called gene-based therapy. Understanding the molecular workings of genes and the proteins they encode will lead to more precise drug treatments. The more precise the drug treatment, the fewer and milder will be the side effects.

Actual gene therapy, replacing a defective gene with its normal counterpart, is still very experimental. There are still many hurdles to overcome involving how to deliver the gene to the proper cells, controlling where that gene is inserted into a chromosome, and how it is activated.

Not surprisingly, some have seen the human genome sequence as a vindication of Darwin. We'll examine that contention next.

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Source:

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