In the quest to chart the innermost reaches of the human cell, scientists have set out biology's most important mapping expedition, the Human Genome Project (HGP). Its mission is to identify the full set of genetic instructions contained in human cells and to read the complete text written in the language of the hereditary chemical DNA. The project began with the culmination of several years of work supported and subsequently initiated by the United States Department of Energy. A 1987 report stated boldly, "The ultimate goal of this initiative was to understand the human genome" and "knowledge of the human is necessary to the continuing progress of medicine and other health sciences as knowledge of human anatomy has been for the present state of medicine." Candidate technologies were already being considered for the proposed undertaking at least as early as 1985. James D. Watson was the head of the National Center for Human Genome Research at the National Institutes of Health (NIH) in the United States starting from 1988. Largely due to his disagreement over the issue of patenting genes, Watson was replaced by Francis Collins in April 1993, and the name of the center was changed to the National Human Genome Research Institute (NHGRI) in 1997.

The $3 billion project was founded in 1990 by the United States Department of Energy and the US NIH and took almost 15 years to complete. In addition to the United States, the international consortium comprised geneticists from the United Kingdom, France, Germany, Japan, China, and India. Due to widespread international cooperation and advances in the field of genomics, the study of genomes of organisms, as well as major advances in computing technology, a "rough draft" of the genome was finished in 2000. Ongoing sequencing led to the announcement of the essentially complete genome in April 2003, 2 years earlier than planned. In May 2006, another milestone was passed on the way to completion of the project when the sequence of the last chromosome was published in the journal Nature.

Inherited diseases are rare, but there are more than 3000 disorders which are known to be caused by alteration of a single gene. Current knowledge of genetic tools are not sufficient to provide a successful cure for most of these disorders. However, having a gene in hand allows scientists to study its structure and characterize the molecular alterations or mutations that result in disease. Progress in understanding the causes of cancer, for example, has taken a leap forward with the recent discovery of cancer genes. The goal of the HGP was to provide scientists with powerful new tools to help them clear the research hurdles that now keep them from understanding the molecular essence of other tragic and devastating illnesses, such as schizophrenia, alcoholism, Alzheimer's disease, and manic depression.

Gene mutations probably play a role in many of today's most common diseases, such as heart disease, diabetes, immune system disorders, and birth defects. These diseases are believed to result from complex interactions between genes and environmental factors. When genes for diseases have been identified, scientists can study how specific environmental factors, such as food, drugs, or pollutants, interact with those genes. Once a gene is located on a chromosome and its DNA sequence worked out, scientists can then determine which protein in the gene is responsible for the disease and then find out its function in the body. This is the first step in understanding the mechanism of a genetic disease and eventually conquering it. One day it may be possible to treat genetic diseases by correcting errors in the gene itself, replacing its abnormal protein with a normal one, or by switching the faulty gene off. Finally, the HGP research will help solve one of the greatest mysteries of life: How does one fertilized egg "know" how to generate so many different specialized cells, such as those making up muscles, brain, heart, eyes, skin, blood, and so on? For a human being or any organism to develop normally, a specific  gene or set of genes must be switched on in the right place in the body at exactly the right moment in development. Information generated by the HGP will shed light on how this intimate dance of gene activity is choreographed into the wide variety of organs and tissues that make up a human being.

مواضيع ذات صلة

التباين في اطوال قطع التقييد (RFLP) Restriction fragment length polymorphism

فصل الكروموسومات بالترحيل الكهربائي

دراسة تسلسل الDNA sequencing) DNA)

مجسات الحامض النووي (Nucleic acid probes)

Joining DNA Fragments

Cutting DNA with Restriction Enzymes

استعمال الPCR في دراسة كمية قليلة من الDNA

عناصر استجابة الجين (المشجع أو الخامد) Gene response elements (Enhancer or Silencer)

انسياب المعلومات الوراثية Flow of genetic information

العاثي لمدا Lambda Phage

هندسة وراثية Genetic Engineering

المخثرات الميكروبية المهندسة وراثي Cloned Microbial Coagulants