Mutations in DNA and RNA can cause genetic disorders because they are the scripts to make proteins and they tell what they do and go to. If a mutation makes a protein that is supposed to go to the liver and it goes to the brain for instance it could mess things up in there. For a Mutation to carry on it usually has to be a dominant gene, or it will just die out in that particular organism. Sickle cell anemia is a disease that causes hemoglobin s (abnormal hemoglobin molecules) and that makes the red blood cells stiffen and assume a sickle shape. The shape of the blood cells causes them to pile up and cause blockages that damage vital tissue. It is anemia because these blood cells are destroyed rapidly in patients. A baby born with sickle cell disease inherits a gene for the disorder from both parents. When both parents have the genetic defect, there is a 25 % chance that each child will be born the disease. With new drugs and research patients are able to live past childhood and live past fifty. The only cure to this is a bone marrow transplant where a close genetic match, usually a sibling, gives bone marrow to correct the blood making. Genetic Therapy claims to be able to correct the defective gene and plant it into the bone marrow.
Stem cell research is where an embryos or adult tissue are used to study genetics and to find cures to diseases. It is controversial because people think that the embryos are human life and that they could be used for cloning. I full agree that stem cell research should be legal because the embryos used for it are most of the time thrown out or re frozen never to be used again. There are diseases that have to be cured and this is the most promising way to do it not through religion or conservative thinking. I do not like the idea of human cloning it is not right and should only be used if our race is about to become extinct (race means humans not black white or w/e). Sickle cell anemia could be cured if a way to reverse and correct the genetic mutation is found.
Thursday, October 22, 2009
Genetic Disorder
A genetic disorder is an illness caused by deformities in chromosomes or genes. There are single gene defects, which are caused by a single gene mutation, and multifactorial diseases, which is multiple gene mutations and often associated with an outside environmental factor. Over 4000 genetic disorders are caused by a single gene mutation. Genomic imprinting, uniparental disomy, division of recessive and dominant genes, and division of autosomal and X-linked types are all related to single genetic mutations. Genetic disorders are often called syndromes. Genotypes are written in lower case or upper case A (aa, AA, or Aa).
Cri du chat syndrome is a rare disorder. It is caused due to a partial deletion of the short arm chromosome number 5. 90% of the cases are from sporadic deletion where the other 10% is from unequal segregation. It affects every 1 in 20,000 to 50,000 births with a female to male ratio of 4:3. In French, Cri du chat means call of the cat. It got this name because infants affected with this disease will have a characteristic cry similar to a cat’s meow. Other symptoms are feeding problems, poor growth, severe cognitive speech and motor delays, behavioral problems, unusual facial features, excessive dribbling, and constipation. This is mainly most visible in toddlers.
Stem cell research is way of treating disease. It is the process of gathering cells from old embryos, which can virtually become any type of human cell. Some people think that the life is begun as soon as the egg is fertilized and consider the embryo a living being. Stem cell research is essentially destroying that embryo to form new cells. Therefore, some people find stem cell to be morally repulsive. I think it should be legal because I do not think of the embryo as a human life. I think it would be really helpful to those diagnosed with syndromes and it could be used to treat those people. I am unsure of the impact stem cell research could affect Cri du chat syndrome, but it could be helpful to many other syndromes.
Cri du chat syndrome is a rare disorder. It is caused due to a partial deletion of the short arm chromosome number 5. 90% of the cases are from sporadic deletion where the other 10% is from unequal segregation. It affects every 1 in 20,000 to 50,000 births with a female to male ratio of 4:3. In French, Cri du chat means call of the cat. It got this name because infants affected with this disease will have a characteristic cry similar to a cat’s meow. Other symptoms are feeding problems, poor growth, severe cognitive speech and motor delays, behavioral problems, unusual facial features, excessive dribbling, and constipation. This is mainly most visible in toddlers.
Stem cell research is way of treating disease. It is the process of gathering cells from old embryos, which can virtually become any type of human cell. Some people think that the life is begun as soon as the egg is fertilized and consider the embryo a living being. Stem cell research is essentially destroying that embryo to form new cells. Therefore, some people find stem cell to be morally repulsive. I think it should be legal because I do not think of the embryo as a human life. I think it would be really helpful to those diagnosed with syndromes and it could be used to treat those people. I am unsure of the impact stem cell research could affect Cri du chat syndrome, but it could be helpful to many other syndromes.
Hemophilia
A genetic disorder is an illness caused by mutations in genes or chromosomes by deletion and insertion. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. A mutated gene is passed down through a family and each generation can inherit the gene that causes the disease.
Single gene disorders can be passed on through the generations in many ways and is affected by genomic imprinting and uniparental disomy.
Hemophilia-is group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation.
There is no cure for hemophilia, but it can be controlled with regular infusions of the deficient clotting factor
Deep internal bleeding, Joint damage, transfusion, adverse reactions, intracranial hemorrage
Stem cell research- stem cells are able to renew themselves through mitotic cell division and differentiating into a diverse range of specialized cell types.
It is controversial because the research involving the creation, usage and destruction of human embryos in a really big issue right now.
I think it should be legal if it saves a lot of people lifes and cures all of the diseases in the world.
Stem cells really could potentially fix hemophilia but only if they could make chromosomes.
A genetic disorder is an illness caused by mutations in genes or chromosomes by deletion and insertion. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. A mutated gene is passed down through a family and each generation can inherit the gene that causes the disease.
Single gene disorders can be passed on through the generations in many ways and is affected by genomic imprinting and uniparental disomy.
Hemophilia-is group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation.
There is no cure for hemophilia, but it can be controlled with regular infusions of the deficient clotting factor
Deep internal bleeding, Joint damage, transfusion, adverse reactions, intracranial hemorrage
Stem cell research- stem cells are able to renew themselves through mitotic cell division and differentiating into a diverse range of specialized cell types.
It is controversial because the research involving the creation, usage and destruction of human embryos in a really big issue right now.
I think it should be legal if it saves a lot of people lifes and cures all of the diseases in the world.
Stem cells really could potentially fix hemophilia but only if they could make chromosomes.
Research Project Questions
-Explain how mutations can cause genetic disorders.
A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. These abnormalities can range from a small mutation in a single gene to the addition of an entire chromosome or even a set of chromosomes, causing a large mutation. Single gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Chromosome abnormalities are where entire chromosomes are missing, duplicated or altered in some other way. Certain genetic disorders are caused by specific mutations of certain parts of the DNA. Genetic disorders are classified by the type of mutation (point mutation, deletion, whole chromosome missing extra or both, or an extended gene). Each chromosome has different mutations that will occur if that chromosome is mutated by any one of those types. There are hundreds of genetic disorders and are all caused by different mutations.
-Describe inheritance patterns.
Inheritance patterns trace the transmission of genetically encoded traits, conditions, or diseases to offspring. The different types of inheritance are single gene, multifactorial, and mitochondrial. Single gene inheritance is when a mutation caused in a single gene follow predictable patterns of inheritance among families. Multifactorial inheritance are mutations caused by genetic factors along with environmental factors. These diseases are not genetically determined, but are based on the genetic and environmental factors and becomes much more difficult to trace. Mitochondria is only transmitted through the mother’s egg, so only females can transmit the mutation, but it will be passed on to all the children, male and female.
-Choose a particular genetic disorder.
Down syndrome is a genetic disorder where a person has 47 chromosomes instead of the normal amount, 46. This extra chromosome comes from a copy of the 21st chromosome. Down syndrome symptoms can range from mild to severe. Some of these symptoms are flattened nose, small ears, small mouth, upward slanting eyes, impulsive behavior, slow learning, short attention span and poor judgment. Along with having Down syndrome, many different medical disorders come along with the disorder. There is no treatment for Down syndrome, but certain defects may require surgery. There are many organizations and groups who are highly involved in the research of Down syndrome and have “made it their priority to understand cognition in people with Down syndrome”. (Stanford School of Medicine Research Center).
-Stem Cell Research
While researching Stem Cell Research, I came across many different websites each with extreme opinions on the topic. For example, one website I found was called Do No Harm: The Coalition of Americans for Research Ethics. I know that stem cell research is a high debated topic, but in my opinion, I think it’s important to keep an open mind about it. Personally, I want to keep an open mind, because if there is a way to find cures to currently “un-curable” diseases, I think it’s important to do so. “A stem cell is a generic cell that can make exact copies of itself indefinitely. This cell has the ability to produce specialized cells for various tissues in the body—such as heart, brain tissue, liver tissue and muscle. Scientists are able to maintain stem cells forever, developing them into specialized cells as needed” (healthscout.com). Stem cell’s have many uses, but one major use for this research would be that stem cells are able to produce tissue, this tissue could be used to treat diseases where a patient’s cells or tissue are destroyed completely. Many diseases that have no “adequate therapy” would benefit I incredibly from stem cell research, diseases such as: Alzheimer’s, Parkinson’s, diabetes, spinal cord injury, heart disease, stroke, arthritis, cancer, and burns. Stem cells are human embryo’s, which is why SCR is such a debated and controversial topic. These human embryo’s are created, used and often destroyed, which makes the debate an ethical one. One must consider both sides of this argument. One side would say that SCR is unethical because it requires the destruction of a human embryo. The other side would say that SCR is good because it offers something in the development of treatment for a wide range of diseases, such as physical trauma and genetic disorders, previously with no cure. I think personally I need to keep an open mind of SCR. Though I do have strong ethics, this research could end up saving millions of lives and curing hundreds of diseases. This relates back to my disease of Down syndrome because SCR could eventually come up with a cure for Down syndrome, which is currently un-curable.
~Maddy Kenny
A genetic disorder is a disease that is caused by an abnormality in an individual’s DNA. These abnormalities can range from a small mutation in a single gene to the addition of an entire chromosome or even a set of chromosomes, causing a large mutation. Single gene disorders result when a mutation causes the protein product of a single gene to be altered or missing. Chromosome abnormalities are where entire chromosomes are missing, duplicated or altered in some other way. Certain genetic disorders are caused by specific mutations of certain parts of the DNA. Genetic disorders are classified by the type of mutation (point mutation, deletion, whole chromosome missing extra or both, or an extended gene). Each chromosome has different mutations that will occur if that chromosome is mutated by any one of those types. There are hundreds of genetic disorders and are all caused by different mutations.
-Describe inheritance patterns.
Inheritance patterns trace the transmission of genetically encoded traits, conditions, or diseases to offspring. The different types of inheritance are single gene, multifactorial, and mitochondrial. Single gene inheritance is when a mutation caused in a single gene follow predictable patterns of inheritance among families. Multifactorial inheritance are mutations caused by genetic factors along with environmental factors. These diseases are not genetically determined, but are based on the genetic and environmental factors and becomes much more difficult to trace. Mitochondria is only transmitted through the mother’s egg, so only females can transmit the mutation, but it will be passed on to all the children, male and female.
-Choose a particular genetic disorder.
Down syndrome is a genetic disorder where a person has 47 chromosomes instead of the normal amount, 46. This extra chromosome comes from a copy of the 21st chromosome. Down syndrome symptoms can range from mild to severe. Some of these symptoms are flattened nose, small ears, small mouth, upward slanting eyes, impulsive behavior, slow learning, short attention span and poor judgment. Along with having Down syndrome, many different medical disorders come along with the disorder. There is no treatment for Down syndrome, but certain defects may require surgery. There are many organizations and groups who are highly involved in the research of Down syndrome and have “made it their priority to understand cognition in people with Down syndrome”. (Stanford School of Medicine Research Center).
-Stem Cell Research
While researching Stem Cell Research, I came across many different websites each with extreme opinions on the topic. For example, one website I found was called Do No Harm: The Coalition of Americans for Research Ethics. I know that stem cell research is a high debated topic, but in my opinion, I think it’s important to keep an open mind about it. Personally, I want to keep an open mind, because if there is a way to find cures to currently “un-curable” diseases, I think it’s important to do so. “A stem cell is a generic cell that can make exact copies of itself indefinitely. This cell has the ability to produce specialized cells for various tissues in the body—such as heart, brain tissue, liver tissue and muscle. Scientists are able to maintain stem cells forever, developing them into specialized cells as needed” (healthscout.com). Stem cell’s have many uses, but one major use for this research would be that stem cells are able to produce tissue, this tissue could be used to treat diseases where a patient’s cells or tissue are destroyed completely. Many diseases that have no “adequate therapy” would benefit I incredibly from stem cell research, diseases such as: Alzheimer’s, Parkinson’s, diabetes, spinal cord injury, heart disease, stroke, arthritis, cancer, and burns. Stem cells are human embryo’s, which is why SCR is such a debated and controversial topic. These human embryo’s are created, used and often destroyed, which makes the debate an ethical one. One must consider both sides of this argument. One side would say that SCR is unethical because it requires the destruction of a human embryo. The other side would say that SCR is good because it offers something in the development of treatment for a wide range of diseases, such as physical trauma and genetic disorders, previously with no cure. I think personally I need to keep an open mind of SCR. Though I do have strong ethics, this research could end up saving millions of lives and curing hundreds of diseases. This relates back to my disease of Down syndrome because SCR could eventually come up with a cure for Down syndrome, which is currently un-curable.
~Maddy Kenny
Genetic Disorder Research
- Mutations can lead to a genetic disorder because the gene that is passed on to the offspring or because of a gene that mutates over time. The only time that a disorder would arise is if the compatible DNA strand for the mutated strand line up.
- Inheritance patterns follow the passage of genetic information.
Down Syndrome:
1. This genetic disorder is caused by a person having one extra chromosome then the usual amount. This is a trait passed to the offspring by the parents.
2. In this past year researchers are saying that the cure for Down syndrome is ‘within reach.’ Researchers say that the cure will not be found anytime this year, and possibly not the next year, but it is getting closer.
3. The physical development of a person with Down syndrome is usually slower then ‘normal.’ Most people who have Down syndrome never reach their adult height. People might also have delayed mental development. When a person with Down syndrome is older they become more aware of their illness and ‘limitations’ which lead to frustration and anger.
4. Down syndrome is the most common cause of birth defects. Also the risk for an offspring to have Down syndrome is a dramatic increase when the female reaches the age of 35 or older.
Stem Cell Research:
a. It’s research on a human embryo cells that can divide to replenish other cells without a limit.
b. It’s controversial because this research can help find cures and treatments for disorders.
Although some people believe that it’s the same as taking a human life.
c. I believe is should be illegal if it is taking a human life. If there were another way to do this research and testing, that would be a much better choice. It’s great that it may be able to help find cures for disorders, but it’s not okay to take another life to do so. Especially one that hasn’t had a chance in the world yet.
d. There isn’t any stem cell research on Down syndrome that I could find. If they were to find a cure many people would not have to go through the difficulties in life and the frustration of having Down syndrome.
- Inheritance patterns follow the passage of genetic information.
Down Syndrome:
1. This genetic disorder is caused by a person having one extra chromosome then the usual amount. This is a trait passed to the offspring by the parents.
2. In this past year researchers are saying that the cure for Down syndrome is ‘within reach.’ Researchers say that the cure will not be found anytime this year, and possibly not the next year, but it is getting closer.
3. The physical development of a person with Down syndrome is usually slower then ‘normal.’ Most people who have Down syndrome never reach their adult height. People might also have delayed mental development. When a person with Down syndrome is older they become more aware of their illness and ‘limitations’ which lead to frustration and anger.
4. Down syndrome is the most common cause of birth defects. Also the risk for an offspring to have Down syndrome is a dramatic increase when the female reaches the age of 35 or older.
Stem Cell Research:
a. It’s research on a human embryo cells that can divide to replenish other cells without a limit.
b. It’s controversial because this research can help find cures and treatments for disorders.
Although some people believe that it’s the same as taking a human life.
c. I believe is should be illegal if it is taking a human life. If there were another way to do this research and testing, that would be a much better choice. It’s great that it may be able to help find cures for disorders, but it’s not okay to take another life to do so. Especially one that hasn’t had a chance in the world yet.
d. There isn’t any stem cell research on Down syndrome that I could find. If they were to find a cure many people would not have to go through the difficulties in life and the frustration of having Down syndrome.
Monday, October 12, 2009
Replication
Explain the process of replication. Also, make sure to describe the structure of DNA and how it plays a role in the process of replication.
Thursday, October 8, 2009
Genetics
What articles did you find that were interesting and how can you see them impacting you in the future?
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