Beyond the Human Genome Project
&
Role of bioengineering
Seven Years Later, Human Genome Competition Continues
Craig Venter and the publicly funded Human Genome Project have a long and somewhat sordid history. Seven years later, Venter apparently cannot allow a milestone involving the Human Genome Project go by without getting some of the limelight.
An embargoed press release announced last week that fellow scientists would present James Watson, co-discoverer of the structure of DNA and the first director of the $3 billion Human Genome Project, with a sequence of all his genes on two DVDs. Watson's genome would also be deposited into GenBank, which is available online for free to anyone who cares to sift through its billions of A, C, T, G sequences. It would be the first entire human genome to be publicly available. A ceremony was held in Houston on Thursday. (Note: the 79-year-old Nobel laureate declined to make available information about a gene associated with Alzheimer's disease; he doesn't want to know.)
Meanwhile, Venter, the former CEO of Celera, the company that raced the Human Genome Project to sequence the entire human genome back in 2000, geared up to make his own announcement. Last week, he deposited his own genome into GenBank.
&
Role of bioengineering
Seven Years Later, Human Genome Competition Continues
Craig Venter and the publicly funded Human Genome Project have a long and somewhat sordid history. Seven years later, Venter apparently cannot allow a milestone involving the Human Genome Project go by without getting some of the limelight.
An embargoed press release announced last week that fellow scientists would present James Watson, co-discoverer of the structure of DNA and the first director of the $3 billion Human Genome Project, with a sequence of all his genes on two DVDs. Watson's genome would also be deposited into GenBank, which is available online for free to anyone who cares to sift through its billions of A, C, T, G sequences. It would be the first entire human genome to be publicly available. A ceremony was held in Houston on Thursday. (Note: the 79-year-old Nobel laureate declined to make available information about a gene associated with Alzheimer's disease; he doesn't want to know.)
Meanwhile, Venter, the former CEO of Celera, the company that raced the Human Genome Project to sequence the entire human genome back in 2000, geared up to make his own announcement. Last week, he deposited his own genome into GenBank.
“When we sequenced the human genome, the anticipation by many was that our genetic code would be totally unique and not resemble any other species — those that wanted humans to be separate from all other life, I guess, were hoping for that — [ ] turns out our genetic code has about 23,000 genes — not all that different from any other mammal — and more importantly while we differ from each other by 1-2%, we differ from the apes by 5-6%. And when we look at gene sequences — the portions that code for proteins — we’re only on the order of 1% different from Chimpanzees, and less than 10% different from all other mammals.”
human genome project?
The Human Genome Project is an effort to understand the genetic instructions that make up a human. The human genome is the the DNA that resides within every human cell. By sequencing the genome, scientists will identify the location and composition of all of our 100,000 or so genes. The genes carry information for making the proteins that direct the make up the each human. Among other things, proteins control human development, physiology, and resistance to disease. Knowledge of gene sequences is tremendously beneficial to scientists studying all facets of living things. Of course, a specific goal of the HUMAN genome project is to facilitate the diagnosis and treatment of disease.
A gene is a stretch of DNA that encodes a bit of information. Most genes encode information telling a cell how to make a protein. Genes also carry information about where to make a protein. For example, there is a protein in human saliva that helps to break down starch in food. This protein is made in the cells that produce saliva, but not in other cells which are not involved in food digestion. Therefore, each gene has two different types of information, information that specifies the sequence of the protein, and information that specifices the regulation of when and where that protein is made. Amazingly, DNA is a very simple molecule which consists of four nucleotide building blocks - the information is encoded in the order of the four nucleotide building blocks. These nucleotides are called Adenine, Cytosine, Guanine and Thymine, and are abbreviated A, C, G and T. By sequencing the genome, scientists are determining the order of these four nucleotides throughout the human genome. The complexitiy arises in that there are approximately 3 billion nucleotides in the human genome, that are grouped into slightly more than 100,000 genes.
genes and their function?
These are two of the big challenges for the "post-genomic" era. It's relatively easy to identify the parts of a gene that encode a protein, and there is a standard "genetic code" that "translates" the gene sequence into a protein sequence. Proteins are more complex than DNA, as they are made up of 20 different building blocks, called amino acids. At this point, it is very difficult to predict what a protein's function is based on its sequence. Scientists are also struggling to understand the other part of the gene, the part that carries the regulatory information for when and where the encoded protein is made. So although the sequence of the human genome is nearly complete, we are still a long way from understanding what it all means! "Bioinformatics" is the new field of science that encompasses many disciplines, and whose goal is to extract meaning from DNA sequence information.
Scientists have identified several human genes that either cause a disease, or are correlated with an increased risk for a disease. All of us have the same genes, but we also have subtle differences in the exact sequences of our genes. For example, everyone has a gene that encodes the protein hemoglobin - it's needed for red blood cells to carry oxygen throughout our body. Some people inherit a copy of the hemoglobin gene that has a single change in the nucleotide sequence, which is sufficient to alter the structure of the protein. In people who inherited two copies of this altered gene (one each from their mother and father), all of the hemoglobin protein they produce has a slightly different structure than "normal" hemoglobin - causing their hemoglobin to clump together and leading to sickle cell anemia.
Several other genes have been linked to inherited disorders. Like sickle-cell anemia, these diseases are caused by an abnormal variation of a gene. Knowledge of these unusual gene forms makes it possible to develop tests that indicate whether a person carries the normal or abnormal form of the gene. For example, tests have been developed for inherited disorders such as Huntington’s disease, Tay-Sachs disease, sickle-cell anemia and cystic fibrosis.
Other genes play a more subtle role in disease. For example, everyone knows exposure to environmental factors such as cigarette smoke and ultra-violet light leads to an increased risk of cancer. We now know that these factors are harmful because they can causes mutations in DNA - they can cause changes in the DNA sequence by chemically altering the DNA molecule. Scientists have identified many genes that help to protect us from developing cancer. If one of these cancer-protecting genes is mutated by exposure to cigarette smoke, it can no longer help protect against cancer. However, we also know that some people are more susceptible to cancer than others. Within the human population, there are many naturally occuring versions of the cancer-protecting genes, and some forms are more protective than others. Therefore, your probability of developing cancer is determined in part by the genes you inherited and in part by the mutations you accumulate during your lifetime. Scientists have made tremendous advances in our understanding of the origins of cancer, and these advances have led to more effective cancer treatments. As we learn more about our genes, we understand more about the complex relationships between genes and cancer or other diseases.
No, humans have a relatively large and complex genome, and so obtaining the complete sequence information has taken a relatively long time. During the time that the human genome was being sequenced, the smaller genomes of dozens of viruses and bacteria, including many human pathogens, have been completely sequenced. Genomic sequences have also been obtained, or are being obtained, for several organisms that are widely used in basic biological research. These organisms include baker’s yeast (Saccharomyces cerevisiae), the roundworm (Caenorhabditis elegans), the fruitfly (Drosophila melanogaster) and a small plant related to mustard (Arabidopsis thaliana).
benefits of studying non-human organisms.
In some sense, all living organims are very similar. The structure of our DNA, and the code that translates proteins from genes is virtually identical across all life forms, and we all share many of the same genes. Because of this similarity, the knowledge that comes from studying non-human organisms is applicable to humans. On the other hand, scientists can also compare the genome sequences between organisms to learn more about what makes us different. For example, comparing DNA sequence information between organisms tells us more about the evolution of life. These molecular data can be used with the physical data from fossil records to give us a more complete understanding of the history of life on earth.
benefits can come from genomic sequencing.
Each human being has a unique genomic sequence (except identical twins). It is the differences in our genomic sequences that give rise to the diversity of the human species. Our genetic differences make us unique in our appearance, our skills and interests, and in our physiology and biochemistry. The better we know ourselves, the easier it will be for us to maintain our health.
Some of our genetic differences affect the way we react to drugs. Some tremendously beneficial drugs are ineffective, or even dangerous, in some people. Millions of people are hospitalized, and hundreds of thousands die every year due to adverse drug reactions. Knowledge about which genes affect a person’s response to a drug, called "pharmacogenomics", can eventually allow doctors to prescribe the right drug at the right dose, all the time.
Some of our genetic differences put us at a high risk of developing cancer, or heart disease, or depression or alcoholism. The knowledge of these genetic variations can help to prevent, or treat, these diseases.
Who is paying for these projects, and who will benefit?
Originally, the effort to sequence the human genome was entirely funded by public money. However, because this information has potential applications in the medical and pharmaceutical industries, private companies also began to sequence large parts of the human genome. Note that public (Human Genome Project) and private (Celera Genomics) organizations jointly announced the completion of the draft of the human genome.
One of the most controversial issues arising from the genome-sequencing project has been the question of who owns the information. Some feel that the patenting of genes will interfere with medical research in two ways. First, gene patents may raise the costs of further research (non-patent owners will have to pay for the right to study a gene). Second, scientists may become more secretive about their research in order to protect their rights to a potentially lucrative patent. Traditionally, scientists publish their research findings in scientific journal articles. Clearly, cutting off this free and open exchange of ideas and information will slow the progress of research. On the other hand, medical research is expensive, and the money obtained from patents can offset these expenses, and can be applied into further research.
What is the link between the human genome project and biotechnology?
Biotechnology is the use of microbial, plant and animal cells to produce materials useful to people. Biotechnology is not directly derived from genomic sequencing, but the field of biotechnology certainly will directly benefit from genomic sequencing. A discussion of the human genome project is not complete without considering the potential risks and benefits of biotechnology. Biotechnology products are quite diverse, and include the enzyme produced in bacteria to manufacture cheese, human insulin produced in bacteria to treat diabetics, transgenic corn plants that are insect-resistant due to the insertion of a gene from a bacterium, and genetically modified mice that are useful models for human diseases. As more is learned about how genes affect the growth, development and physiology of organisms, more tools will become available for use in the biotechnology industry. Many people have concerns about some biotechnology applications, which has led to sometimes violent confrontations. Scientists as a group are not in agreement as to the environmental and public health consequences of genetically modified organisms.
The development of genetic tests themselves raises several concerns. Can test results be kept private? Will a predisposition to a disease lead to discrimination? How will the availability of prenatal genetic tests affect parents' reproductive decisions? Who will have access to these expensive tests? To address these and other issues, the National Institute of Health and the U.S. DOE have devoted about 5% of their annual HGP budgets to study ethical, legal and social issues.
The Human Genome Project is an effort to understand the genetic instructions that make up a human. The human genome is the the DNA that resides within every human cell. By sequencing the genome, scientists will identify the location and composition of all of our 100,000 or so genes. The genes carry information for making the proteins that direct the make up the each human. Among other things, proteins control human development, physiology, and resistance to disease. Knowledge of gene sequences is tremendously beneficial to scientists studying all facets of living things. Of course, a specific goal of the HUMAN genome project is to facilitate the diagnosis and treatment of disease.
A gene is a stretch of DNA that encodes a bit of information. Most genes encode information telling a cell how to make a protein. Genes also carry information about where to make a protein. For example, there is a protein in human saliva that helps to break down starch in food. This protein is made in the cells that produce saliva, but not in other cells which are not involved in food digestion. Therefore, each gene has two different types of information, information that specifies the sequence of the protein, and information that specifices the regulation of when and where that protein is made. Amazingly, DNA is a very simple molecule which consists of four nucleotide building blocks - the information is encoded in the order of the four nucleotide building blocks. These nucleotides are called Adenine, Cytosine, Guanine and Thymine, and are abbreviated A, C, G and T. By sequencing the genome, scientists are determining the order of these four nucleotides throughout the human genome. The complexitiy arises in that there are approximately 3 billion nucleotides in the human genome, that are grouped into slightly more than 100,000 genes.
genes and their function?
These are two of the big challenges for the "post-genomic" era. It's relatively easy to identify the parts of a gene that encode a protein, and there is a standard "genetic code" that "translates" the gene sequence into a protein sequence. Proteins are more complex than DNA, as they are made up of 20 different building blocks, called amino acids. At this point, it is very difficult to predict what a protein's function is based on its sequence. Scientists are also struggling to understand the other part of the gene, the part that carries the regulatory information for when and where the encoded protein is made. So although the sequence of the human genome is nearly complete, we are still a long way from understanding what it all means! "Bioinformatics" is the new field of science that encompasses many disciplines, and whose goal is to extract meaning from DNA sequence information.
Scientists have identified several human genes that either cause a disease, or are correlated with an increased risk for a disease. All of us have the same genes, but we also have subtle differences in the exact sequences of our genes. For example, everyone has a gene that encodes the protein hemoglobin - it's needed for red blood cells to carry oxygen throughout our body. Some people inherit a copy of the hemoglobin gene that has a single change in the nucleotide sequence, which is sufficient to alter the structure of the protein. In people who inherited two copies of this altered gene (one each from their mother and father), all of the hemoglobin protein they produce has a slightly different structure than "normal" hemoglobin - causing their hemoglobin to clump together and leading to sickle cell anemia.
Several other genes have been linked to inherited disorders. Like sickle-cell anemia, these diseases are caused by an abnormal variation of a gene. Knowledge of these unusual gene forms makes it possible to develop tests that indicate whether a person carries the normal or abnormal form of the gene. For example, tests have been developed for inherited disorders such as Huntington’s disease, Tay-Sachs disease, sickle-cell anemia and cystic fibrosis.
Other genes play a more subtle role in disease. For example, everyone knows exposure to environmental factors such as cigarette smoke and ultra-violet light leads to an increased risk of cancer. We now know that these factors are harmful because they can causes mutations in DNA - they can cause changes in the DNA sequence by chemically altering the DNA molecule. Scientists have identified many genes that help to protect us from developing cancer. If one of these cancer-protecting genes is mutated by exposure to cigarette smoke, it can no longer help protect against cancer. However, we also know that some people are more susceptible to cancer than others. Within the human population, there are many naturally occuring versions of the cancer-protecting genes, and some forms are more protective than others. Therefore, your probability of developing cancer is determined in part by the genes you inherited and in part by the mutations you accumulate during your lifetime. Scientists have made tremendous advances in our understanding of the origins of cancer, and these advances have led to more effective cancer treatments. As we learn more about our genes, we understand more about the complex relationships between genes and cancer or other diseases.
No, humans have a relatively large and complex genome, and so obtaining the complete sequence information has taken a relatively long time. During the time that the human genome was being sequenced, the smaller genomes of dozens of viruses and bacteria, including many human pathogens, have been completely sequenced. Genomic sequences have also been obtained, or are being obtained, for several organisms that are widely used in basic biological research. These organisms include baker’s yeast (Saccharomyces cerevisiae), the roundworm (Caenorhabditis elegans), the fruitfly (Drosophila melanogaster) and a small plant related to mustard (Arabidopsis thaliana).
benefits of studying non-human organisms.
In some sense, all living organims are very similar. The structure of our DNA, and the code that translates proteins from genes is virtually identical across all life forms, and we all share many of the same genes. Because of this similarity, the knowledge that comes from studying non-human organisms is applicable to humans. On the other hand, scientists can also compare the genome sequences between organisms to learn more about what makes us different. For example, comparing DNA sequence information between organisms tells us more about the evolution of life. These molecular data can be used with the physical data from fossil records to give us a more complete understanding of the history of life on earth.
benefits can come from genomic sequencing.
Each human being has a unique genomic sequence (except identical twins). It is the differences in our genomic sequences that give rise to the diversity of the human species. Our genetic differences make us unique in our appearance, our skills and interests, and in our physiology and biochemistry. The better we know ourselves, the easier it will be for us to maintain our health.
Some of our genetic differences affect the way we react to drugs. Some tremendously beneficial drugs are ineffective, or even dangerous, in some people. Millions of people are hospitalized, and hundreds of thousands die every year due to adverse drug reactions. Knowledge about which genes affect a person’s response to a drug, called "pharmacogenomics", can eventually allow doctors to prescribe the right drug at the right dose, all the time.
Some of our genetic differences put us at a high risk of developing cancer, or heart disease, or depression or alcoholism. The knowledge of these genetic variations can help to prevent, or treat, these diseases.
Who is paying for these projects, and who will benefit?
Originally, the effort to sequence the human genome was entirely funded by public money. However, because this information has potential applications in the medical and pharmaceutical industries, private companies also began to sequence large parts of the human genome. Note that public (Human Genome Project) and private (Celera Genomics) organizations jointly announced the completion of the draft of the human genome.
One of the most controversial issues arising from the genome-sequencing project has been the question of who owns the information. Some feel that the patenting of genes will interfere with medical research in two ways. First, gene patents may raise the costs of further research (non-patent owners will have to pay for the right to study a gene). Second, scientists may become more secretive about their research in order to protect their rights to a potentially lucrative patent. Traditionally, scientists publish their research findings in scientific journal articles. Clearly, cutting off this free and open exchange of ideas and information will slow the progress of research. On the other hand, medical research is expensive, and the money obtained from patents can offset these expenses, and can be applied into further research.
What is the link between the human genome project and biotechnology?
Biotechnology is the use of microbial, plant and animal cells to produce materials useful to people. Biotechnology is not directly derived from genomic sequencing, but the field of biotechnology certainly will directly benefit from genomic sequencing. A discussion of the human genome project is not complete without considering the potential risks and benefits of biotechnology. Biotechnology products are quite diverse, and include the enzyme produced in bacteria to manufacture cheese, human insulin produced in bacteria to treat diabetics, transgenic corn plants that are insect-resistant due to the insertion of a gene from a bacterium, and genetically modified mice that are useful models for human diseases. As more is learned about how genes affect the growth, development and physiology of organisms, more tools will become available for use in the biotechnology industry. Many people have concerns about some biotechnology applications, which has led to sometimes violent confrontations. Scientists as a group are not in agreement as to the environmental and public health consequences of genetically modified organisms.
The development of genetic tests themselves raises several concerns. Can test results be kept private? Will a predisposition to a disease lead to discrimination? How will the availability of prenatal genetic tests affect parents' reproductive decisions? Who will have access to these expensive tests? To address these and other issues, the National Institute of Health and the U.S. DOE have devoted about 5% of their annual HGP budgets to study ethical, legal and social issues.
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